Full data view for gene XRCC2

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_005431.1 transcript reference sequence.

229 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.-1G>A - r.(?) p.(=) Unknown - VUS g.152373165C>T g.152676080C>T - - XRCC2_000012 - PubMed: Park 2012 - - Germline ? 1/1308 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - white - 0 - - 1 Johan den Dunnen
-/. - c.40-10C>T - r.(=) p.(=) Unknown - benign g.152357877G>A g.152660792G>A XRCC2(NM_005431.1):c.40-10C>T - XRCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.41T>C - r.(?) p.(Leu14Pro) Parent #1 - NA g.152357866A>G - chr7_152357866_A_G - XRCC2_000167 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.43C>G - r.(?) p.(Leu15Val) Parent #1 - NA g.152357864G>C - chr7_152357864_G_C - XRCC2_000166 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.46G>C - r.(?) p.(Ala16Pro) Parent #1 - NA g.152357861C>G - chr7_152357861_C_G - XRCC2_000165 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 2 c.46G>T - r.(?) p.(Ala16Ser) Unknown - VUS g.152357861C>A g.152660776C>A - - XRCC2_000007 - PubMed: Park 2012 - - Germline ? 1/1308 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - East Asian - 0 - - 1 Johan den Dunnen
?/. - c.46G>T - r.(?) p.(Ala16Ser) Parent #1 - NA g.152357861C>A - chr7_152357861_C_A - XRCC2_000007 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 14/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 14 BRIDGES consortium
?/. - c.46G>T - r.(?) p.(Ala16Ser) Parent #1 - NA g.152357861C>A - chr7_152357861_C_A - XRCC2_000007 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 10/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 10 BRIDGES consortium
?/. - c.49del - r.(?) p.(Arg17Aspfs*8) Parent #1 - NA g.152357860del - chr7_152357857_CG_C - XRCC2_000164 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 2 c.49C>T - r.(?) p.(Arg17*) Unknown - VUS g.152357858G>A g.152660773G>A - - XRCC2_000006 - PubMed: Park 2012 - - Germline ? 1/1308 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - F ? - white - 0 - - 1 Johan den Dunnen
?/. - c.49C>T - r.(?) p.(Arg17*) Parent #1 - NA g.152357858G>A - chr7_152357858_G_A - XRCC2_000006 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.50G>A - r.(?) p.(Arg17Gln) Parent #1 - NA g.152357857C>T - chr7_152357857_C_T - XRCC2_000163 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.50G>A - r.(?) p.(Arg17Gln) Parent #1 - NA g.152357857C>T - chr7_152357857_C_T - XRCC2_000163 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.50G>T - r.(?) p.(Arg17Leu) Parent #1 - NA g.152357857C>A - chr7_152357857_C_A - XRCC2_000162 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.52C>A - r.(?) p.(Leu18Ile) Parent #1 - NA g.152357855G>T - chr7_152357855_G_T - XRCC2_000161 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.57A>T - r.(?) p.(Glu19Asp) Parent #1 - NA g.152357850T>A - chr7_152357850_T_A - XRCC2_000160 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.61A>G - r.(?) p.(Arg21Gly) Parent #1 - NA g.152357846T>C - chr7_152357846_T_C - XRCC2_000159 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.64A>G - r.(?) p.(Ser22Gly) Parent #1 - NA g.152357843T>C - chr7_152357843_T_C - XRCC2_000158 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.65G>A - r.(?) p.(Ser22Asn) Parent #1 - NA g.152357842C>T - chr7_152357842_C_T - XRCC2_000157 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.77A>G - r.(?) p.(Glu26Gly) Parent #1 - NA g.152357830T>C - chr7_152357830_T_C - XRCC2_000156 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.77A>T - r.(?) p.(Glu26Val) Parent #1 - NA g.152357830T>A - chr7_152357830_T_A - XRCC2_000155 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.80T>C - r.(?) p.(Ile27Thr) Parent #1 - NA g.152357827A>G - chr7_152357827_A_G - XRCC2_000154 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.80T>C - r.(?) p.(Ile27Thr) Parent #1 - NA g.152357827A>G - chr7_152357827_A_G - XRCC2_000154 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.83A>G - r.(?) p.(Glu28Gly) Parent #1 - NA g.152357824T>C - chr7_152357824_T_C - XRCC2_000153 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.88A>G - r.(?) p.(Asn30Asp) Parent #1 - NA g.152357819T>C - chr7_152357819_T_C - XRCC2_000152 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.89A>G - r.(?) p.(Asn30Ser) Parent #1 - NA g.152357818T>C - chr7_152357818_T_C - XRCC2_000151 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.94T>G - r.(?) p.(Phe32Val) Parent #1 - NA g.152357813A>C - chr7_152357813_A_C - XRCC2_000150 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.96del - r.(?) p.(Phe32Leufs*30) Parent #1 - NA g.152357813del - chr7_152357810_CA_C - XRCC2_000033 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 16/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 16 BRIDGES consortium
?/. - c.96del - r.(?) p.(Phe32Leufs*30) Parent #1 - NA g.152357813del - chr7_152357810_CA_C - XRCC2_000033 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 17/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 17 BRIDGES consortium
?/. - c.95T>C - r.(?) p.(Phe32Ser) Parent #1 - NA g.152357812A>G - chr7_152357812_A_G - XRCC2_000149 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.96del - r.(?) p.(Phe32LeufsTer30) Unknown - pathogenic g.152357813del g.152660728del XRCC2(NM_005431.1):c.96delT (p.F32Lfs*30) - XRCC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.97G>A - r.(?) p.(Ala33Thr) Parent #1 - NA g.152357810C>T - chr7_152357810_C_T - XRCC2_000148 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.100G>A - r.(?) p.(Asp34Asn) Parent #1 - NA g.152357807C>T - chr7_152357807_C_T - XRCC2_000147 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.106G>A - r.(?) p.(Asp36Asn) Parent #1 - NA g.152357801C>T - chr7_152357801_C_T - XRCC2_000146 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.106G>A - r.(?) p.(Asp36Asn) Parent #1 - NA g.152357801C>T - chr7_152357801_C_T - XRCC2_000146 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.112C>G - r.(?) p.(Pro38Ala) Parent #1 - NA g.152357795G>C - chr7_152357795_G_C - XRCC2_000145 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.115G>A - r.(?) p.(Val39Met) Parent #1 - NA g.152357792C>T - chr7_152357792_C_T - XRCC2_000144 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 15/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 15 BRIDGES consortium
?/. - c.115G>A - r.(?) p.(Val39Met) Parent #1 - NA g.152357792C>T - chr7_152357792_C_T - XRCC2_000144 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 9/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 9 BRIDGES consortium
?/. - c.116T>C - r.(?) p.(Val39Ala) Parent #1 - NA g.152357791A>G - chr7_152357791_A_G - XRCC2_000143 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.118C>T - r.(?) p.(His40Tyr) Parent #1 - NA g.152357789G>A - chr7_152357789_G_A - XRCC2_000142 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.118C>T - r.(?) p.(His40Tyr) Parent #1 - NA g.152357789G>A - chr7_152357789_G_A - XRCC2_000142 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.119A>G - r.(?) p.(His40Arg) Parent #1 - NA g.152357788T>C - chr7_152357788_T_C - XRCC2_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.119A>G - r.(?) p.(His40Arg) Parent #1 - NA g.152357788T>C - chr7_152357788_T_C - XRCC2_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.121G>A - r.(?) p.(Gly41Ser) Parent #1 - NA g.152357786C>T - chr7_152357786_C_T - XRCC2_000140 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.124G>T - r.(?) p.(Asp42Tyr) Parent #1 - NA g.152346446C>A - chr7_152346446_C_A - XRCC2_000139 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.129T>G - r.(?) p.(Ile43Met) Parent #1 - NA g.152346441A>C - chr7_152346441_A_C - XRCC2_000138 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 3 c.140A>G - r.(?) p.(His47Arg) Unknown - VUS g.152346430T>C g.152649345T>C - - XRCC2_000013 - PubMed: Hilbers 2012 - - Germline ? 1/3548 - 0 - DNA SEQ - - cancer, breast - PubMed: Hilbers 2012 - F ? United States - - 0 - - 1 Florentine Hilbers
?/. - c.140A>G - r.(?) p.(His47Arg) Parent #1 - NA g.152346430T>C - chr7_152346430_T_C - XRCC2_000013 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.150A>C - r.(?) p.(Glu50Asp) Parent #1 - NA g.152346420T>G - chr7_152346420_T_G - XRCC2_000137 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.150A>C - r.(?) p.(Glu50Asp) Parent #1 - NA g.152346420T>G - chr7_152346420_T_G - XRCC2_000137 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.154A>G - r.(?) p.(Thr52Ala) Parent #1 - NA g.152346416T>C - chr7_152346416_T_C - XRCC2_000136 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.155C>A - r.(?) p.(Thr52Lys) Parent #1 - NA g.152346415G>T - chr7_152346415_G_T - XRCC2_000135 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.155C>T - r.(?) p.(Thr52Ile) Parent #1 - NA g.152346415G>A - chr7_152346415_G_A - XRCC2_000134 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.158G>C - r.(?) p.(Gly53Ala) Parent #1 - NA g.152346412C>G - chr7_152346412_C_G - XRCC2_000133 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.160A>G - r.(?) p.(Lys54Glu) Parent #1 - NA g.152346410T>C - chr7_152346410_T_C - XRCC2_000132 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.164C>T - r.(?) p.(Thr55Ile) Parent #1 - NA g.152346406G>A - chr7_152346406_G_A - XRCC2_000131 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.171G>A - r.(?) p.(Met57Ile) Parent #1 - NA g.152346399C>T - chr7_152346399_C_T - XRCC2_000130 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. 3 c.181C>A - r.(?) p.(Leu61Ile) Unknown - VUS g.152346389G>T g.152649304G>T - - XRCC2_000008 - PubMed: Park 2012 - - Germline ? 1/1308 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - F ? - East Asian - 0 - - 1 Johan den Dunnen
?/. - c.181C>A - r.(?) p.(Leu61Ile) Parent #1 - NA g.152346389G>T - chr7_152346389_G_T - XRCC2_000008 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.181C>G - r.(?) p.(Leu61Val) Parent #1 - NA g.152346389G>C - chr7_152346389_G_C - XRCC2_000129 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.182T>C - r.(?) p.(Leu61Pro) Parent #1 - NA g.152346388A>G - chr7_152346388_A_G - XRCC2_000128 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.185C>T - r.(?) p.(Thr62Ile) Parent #1 - NA g.152346385G>A - chr7_152346385_G_A - XRCC2_000127 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.188C>T - r.(?) p.(Ala63Val) Parent #1 - NA g.152346382G>A - chr7_152346382_G_A - XRCC2_000126 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-?/. 3 c.189A>G - r.(?) p.(=) Unknown - likely benign g.152346381T>C g.152649296T>C A63A - XRCC2_000014 - PubMed: Hilbers 2012 - - Germline ? 2/3548 - 0 - DNA DHPLC, SEQ - - cancer, breast - PubMed: Hilbers 2012 - F ? Spain - - 0 - - 1 Florentine Hilbers
?/. 3 c.189A>G - r.(?) p.(=) Unknown - VUS g.152346381T>C g.152649296T>C A63A - XRCC2_000014 - PubMed: Hilbers 2012 - - Germline ? 2/3548 - 0 - DNA DHPLC, SEQ - - cancer, breast - PubMed: Hilbers 2012 - F ? Spain - - 0 - - 1 Florentine Hilbers
?/. - c.191G>A - r.(?) p.(Arg64Gln) Parent #1 - NA g.152346379C>T - chr7_152346379_C_T - XRCC2_000125 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
-?/. - c.206A>G - r.(?) p.(Lys69Arg) Unknown - likely benign g.152346364T>C g.152649279T>C XRCC2(NM_005431.1):c.206A>G (p.K69R) - XRCC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.206A>G - r.(?) p.(Lys69Arg) Parent #1 - NA g.152346364T>C - chr7_152346364_T_C - XRCC2_000032 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.218G>C - r.(?) p.(Gly73Ala) Parent #1 - NA g.152346352C>G - chr7_152346352_C_G - XRCC2_000124 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-?/. 3 c.223G>C - r.(?) p.(Glu75Gln) Unknown - likely benign g.152346347C>G g.152649262C>G - - XRCC2_000015 - PubMed: Hilbers 2012 - - Germline ? 1/3548 - 0 - DNA SEQ - - cancer, breast - PubMed: Hilbers 2012 - F ? United States - - 0 - - 1 Florentine Hilbers
?/. - c.226G>A - r.(?) p.(Val76Ile) Parent #1 - NA g.152346344C>T - chr7_152346344_C_T - XRCC2_000123 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.229G>A - r.(?) p.(Glu77Lys) Parent #1 - NA g.152346341C>T - chr7_152346341_C_T - XRCC2_000122 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.238T>C - r.(?) p.(Phe80Leu) Parent #1 - NA g.152346332A>G - chr7_152346332_A_G - XRCC2_000121 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. 3 c.247dup - r.(?) p.(Thr83Asnfs*6) Unknown - VUS g.152346323dup g.152649238dup - - XRCC2_000017 - - - - Germline ? - - 0 - DNA SEQ - - cancer, breast - - - - ? - - - 0 - - 1 Florentine Hilbers
?/. - c.248C>T - r.(?) p.(Thr83Ile) Parent #1 - NA g.152346322G>A - chr7_152346322_G_A - XRCC2_000120 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.253T>C - r.(?) p.(Tyr85His) Parent #1 - NA g.152346317A>G - chr7_152346317_A_G - XRCC2_000119 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.259T>C - r.(?) p.(Phe87Leu) Parent #1 - NA g.152346311A>G - chr7_152346311_A_G - XRCC2_000118 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.262G>T - r.(?) p.(Asp88Tyr) Parent #1 - NA g.152346308C>A - chr7_152346308_C_A - XRCC2_000117 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.262G>T - r.(?) p.(Asp88Tyr) Parent #1 - NA g.152346308C>A - chr7_152346308_C_A - XRCC2_000117 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.265A>G - r.(?) p.(Met89Val) Parent #1 - NA g.152346305T>C - chr7_152346305_T_C - XRCC2_000116 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.266T>C - r.(?) p.(Met89Thr) Parent #1 - NA g.152346304A>G - chr7_152346304_A_G - XRCC2_000115 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 3 c.271C>T - r.(?) p.(Arg91Trp) Unknown - VUS g.152346299G>A g.152649214G>A - - XRCC2_000002 - PubMed: Park 2012 - - Germline ? - - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - F ? Netherlands white - 0 - - 1 Johan den Dunnen
?/. 3 c.271C>T - r.(?) p.(Arg91Trp) Unknown - VUS g.152346299G>A g.152649214G>A - - XRCC2_000002 - PubMed: Park 2012 - - Germline ? - - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - F ? Australia white - 0 - - 1 Johan den Dunnen
?/. - c.271C>T - r.(?) p.(Arg91Trp) Parent #1 - NA g.152346299G>A - chr7_152346299_G_A - XRCC2_000002 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
?/. - c.271C>T - r.(?) p.(Arg91Trp) Parent #1 - NA g.152346299G>A - chr7_152346299_G_A - XRCC2_000002 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.272G>A - r.(?) p.(Arg91Gln) Parent #1 - NA g.152346298C>T - chr7_152346298_C_T - XRCC2_000114 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.272G>A - r.(?) p.(Arg91Gln) Parent #1 - NA g.152346298C>T - chr7_152346298_C_T - XRCC2_000114 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.280A>C - r.(?) p.(Thr94Pro) Parent #1 - NA g.152346290T>G - chr7_152346290_T_G - XRCC2_000113 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.281C>G - r.(?) p.(Thr94Arg) Parent #1 - NA g.152346289G>C - chr7_152346289_G_C - XRCC2_000112 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.281C>T - r.(?) p.(Thr94Ile) Parent #1 - NA g.152346289G>A - chr7_152346289_G_A - XRCC2_000111 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. 3 c.283A>C - r.(?) p.(Ile95Leu) Unknown - VUS g.152346287T>G g.152649202T>G - - XRCC2_000003 - PubMed: Park 2012 - - Germline ? - - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - white - 0 - - 1 Johan den Dunnen
?/. 3 c.283A>C - r.(?) p.(Ile95Leu) Unknown - VUS g.152346287T>G g.152649202T>G - - XRCC2_000003 - PubMed: Park 2012 - - Germline ? - - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - white - 0 - - 1 Johan den Dunnen
?/. 3 c.283A>G - r.(?) p.(Ile95Val) Unknown - VUS g.152346287T>C g.152649202T>C - - XRCC2_000004 - PubMed: Park 2012 - - Germline ? - - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - white - 0 - - 1 Johan den Dunnen
?/. 3 c.283A>G - r.(?) p.(Ile95Val) Unknown - VUS g.152346287T>C g.152649202T>C - - XRCC2_000004 - PubMed: Park 2012 - - Germline ? 1/1120 controls - 0 - DNA SEQ - - cancer, breast - PubMed: Park 2012 - - ? - white - 0 - - 1 Johan den Dunnen
?/. - c.283A>G - r.(?) p.(Ile95Val) Parent #1 - NA g.152346287T>C - chr7_152346287_T_C - XRCC2_000004 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 46/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 46 BRIDGES consortium
?/. - c.283A>G - r.(?) p.(Ile95Val) Parent #1 - NA g.152346287T>C - chr7_152346287_T_C - XRCC2_000004 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 41/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 41 BRIDGES consortium
?/. - c.286C>A - r.(?) p.(Leu96Ile) Parent #1 - NA g.152346284G>T - chr7_152346284_G_T - XRCC2_000110 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.308G>C - r.(?) p.(Ser103Thr) Parent #1 - NA g.152346262C>G - chr7_152346262_C_G - XRCC2_000109 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.309C>G - r.(?) p.(Ser103Arg) Parent #1 - NA g.152346261G>C - chr7_152346261_G_C - XRCC2_000108 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.322A>G - r.(?) p.(Ile108Val) Parent #1 - NA g.152346248T>C - chr7_152346248_T_C - XRCC2_000107 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
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