Full data view for gene RAD51C

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_058216.1 transcript reference sequence.

483 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.-26C>T r.(?) p.(=) - Unknown - likely benign g.56769979C>T g.58692618C>T - - RAD51C_000022 - - - rs12946397 Germline ? 321/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 1 c.-26C>T r.(?) p.(=) - Unknown - likely benign g.56769979C>T g.58692618C>T - - RAD51C_000022 - - - rs12946397 Germline ? 47/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
-?/. 1 c.-26C>T r.(?) p.(=) - Unknown - likely benign g.56769979C>T g.58692618C>T - - RAD51C_000022 - - - rs12946397 Germline ? 12/76 BRCA2 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 76 Christine Rappaport
-?/. 1 c.-26C>T r.(?) p.(=) - Unknown - likely benign g.56769979C>T g.58692618C>T - - RAD51C_000022 - - - rs12946397 Germline ? 31/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - - - - (not applicable) - - 0 - - 101 Christine Rappaport
-/. - c.-26C>T r.(?) p.(=) - Unknown - benign g.56769979C>T g.58692618C>T RAD51C(NM_058216.1):c.-26C>T - RAD51C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26C>T r.(?) p.(=) - Unknown - benign g.56769979C>T - RAD51C(NM_058216.1):c.-26C>T - RAD51C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6C>T r.(?) p.(=) - Unknown - likely benign g.56769999C>T g.58692638C>T - - TEX14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-2C>G r.(?) p.(=) - Parent #1 - VUS g.56770003C>G g.58692642C>G - - RAD51C_000023 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - cancer, breast - - - F no Austria - - 0 - - 1 Christine Rappaport
?/. - c.3G>A r.? p.? - Parent #1 - NA g.56770007G>A - chr17_56770007_G_A - RAD51C_000076 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
?/. 1 c.4C>G r.(?) p.(Arg2Gly) - Parent #1 - VUS g.56770008C>G g.58692647C>G - - RAD51C_000036 - PubMed: Pang 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Pang 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.4C>T r.(?) p.(Arg2Cys) - Unknown - VUS g.56770008C>T g.58692647C>T RAD51C(NM_058216.1):c.4C>T (p.R2C) - TEX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4C>T r.(?) p.(Arg2Cys) - Parent #1 - NA g.56770008C>T - chr17_56770008_C_T - TEX14_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
-?/. 1 c.7G>A r.(?) p.(Gly3Arg) - Parent #1 - likely benign g.56770011G>A g.58692650G>A - - RAD51C_000044 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
?/. - c.7G>A r.(?) p.(Gly3Arg) - Parent #1 - NA g.56770011G>A - chr17_56770011_G_A - RAD51C_000044 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.7G>A r.(?) p.(Gly3Arg) - Parent #1 - NA g.56770011G>A - chr17_56770011_G_A - RAD51C_000044 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
?/. 1 c.9G>C r.(?) p.(=) - Parent #1 - VUS g.56770013G>C g.58692652G>C - - RAD51C_000049 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - from a breast/ovarian cancer high-risk family F no Austria - - 0 - - 1 Christine Rappaport
?/. - c.13A>T r.(?) p.(Thr5Ser) - Parent #1 - NA g.56770017A>T - chr17_56770017_A_T - RAD51C_000077 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.14C>T r.(?) p.(Thr5Met) - Parent #1 - NA g.56770018C>T - chr17_56770018_C_T - RAD51C_000078 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.14C>T r.(?) p.(Thr5Met) - Parent #1 - NA g.56770018C>T - chr17_56770018_C_T - RAD51C_000078 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.28A>G r.(?) p.(Met10Val) - Parent #1 - NA g.56770032A>G - chr17_56770032_A_G - RAD51C_000079 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.37G>T r.(?) p.(Asp13Tyr) - Unknown - likely benign g.56770041G>T g.58692680G>T - - TEX14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.68_72dup r.(?) p.(Val25Cysfs*3) - Unknown - pathogenic g.56770072_56770076dup g.58692711_58692715dup c.72_73insTGCGG - RAD51C_000002 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline yes 1/21 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 4-generation family, 5 affecteds F - Australia - - 0 - - 5 Ian Campbell
?/. - c.71G>A r.(?) p.(Arg24Gln) - Parent #1 - NA g.56770075G>A - chr17_56770075_G_A - RAD51C_000080 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.73G>A r.(?) p.(Val25Met) - Unknown - VUS g.56770077G>A - - - TEX14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>T r.(?) p.(Lys26Met) - Parent #1 - NA g.56770081A>T - chr17_56770081_A_T - RAD51C_000081 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.80T>C r.(?) p.(Leu27Pro) - Unknown - VUS g.56770084T>C - - - TEX14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82G>A r.(?) p.(Val28Met) - Parent #1 - NA g.56770086G>A - chr17_56770086_G_A - RAD51C_000082 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
-?/. 1 c.87T>C r.(?) p.(=) - Unknown - likely benign g.56770091T>C g.58692730T>C S29S - RAD51C_000017 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/190 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
-/. - c.90G>A r.(?) p.(Ala30=) - Unknown - benign g.56770094G>A g.58692733G>A RAD51C(NM_058216.1):c.90G>A (p.A30=) - TEX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Ala30=) - Unknown - benign g.56770094G>A - RAD51C(NM_058216.1):c.90G>A (p.A30=) - TEX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.93del r.(?) p.fs - Parent #1 - pathogenic g.56770097del g.58692736del - - RAD51C_000048 - PubMed: Pelttari 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, ovarian - PubMed: Pelttari 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.97C>T r.(?) p.(Gln33*) - Parent #1 - NA g.56770101C>T - chr17_56770101_C_T - RAD51C_000083 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.134A>G r.(?) p.(Glu45Gly) - Unknown ACMG VUS g.56770138A>G g.58692777A>G - - RAD51C_000071 ACMG grading: PM2 BC at age 46y, grandmother (ms) OC at age 44y, cousin (ms) OC at age 58y - - rs587781383 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.134A>G r.(?) p.(Glu45Gly) - Parent #1 - NA g.56770138A>G - chr17_56770138_A_G - RAD51C_000071 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 - 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.144A>T r.(?) p.(Lys48Asn) - Parent #1 - NA g.56770148A>T - chr17_56770148_A_T - RAD51C_000084 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
+/. 1i c.145+1G>T r.-11_145del p.0? - Parent #1 - pathogenic g.56770150G>T g.58692789G>T - - RAD51C_000027 not in 2912 controls; altered splicing PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA, RNA PCR, RT-PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. 1i c.145+12T>G r.(=) p.(=) - Unknown - VUS g.56770161T>G g.58692800T>G - - RAD51C_000026 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs377297129 Germline ? 4/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. - c.145+12T>G r.(=) p.(=) - Unknown - likely benign g.56770161T>G g.58692800T>G RAD51C(NM_058216.1):c.145+12T>G - RAD51C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+12T>G r.(=) p.(=) - Unknown - likely benign g.56770161T>G - RAD51C(NM_058216.1):c.145+12T>G - RAD51C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+12T>G r.(=) p.(=) - Unknown - likely benign g.56770161T>G - RAD51C(NM_058216.1):c.145+12T>G - RAD51C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146-101T>C r.(=) p.(=) - Unknown - likely benign g.56772191T>C - RAD51C(NM_058216.1):c.146-101T>C - TEX14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146-85T>A r.(=) p.(=) - Unknown - likely benign g.56772207T>A - RAD51C(NM_058216.1):c.146-85T>A - TEX14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.146-8A>G r.(=) p.(=) - Unknown - likely benign g.56772284A>G g.58694923A>G - - RAD51C_000028 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs201079501 Germline ? 2/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 1i c.146-8A>G r.(=) p.= - Unknown - NA g.56772284A>G g.58694923A>G - - RAD51C_000028 DNA from FFPE tumor tissue: no abnormal promotor methylation detected; RNA/cDNA: no abnormalities - - - In vitro (cloned) ? - - 0 - DNA, RNA MET, RT-PCR, SEQ - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.146-8A>G r.(=) p.(=) - Unknown - VUS g.56772284A>G - RAD51C(NM_058216.1):c.146-8A>G - RAD51C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146-3C>T r.= p.= - Unknown - NA g.56772289C>T g.58694928C>T MCF-7 cell expression in vitro minigene splicing assay - RAD51C_000240 - PubMed: Sanoguera-Miralles 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.146-3C>T r.= p.= - Unknown ACMG VUS g.56772289C>T g.58694928C>T ACMG BS3 - RAD51C_000240 - PubMed: Sanoguera-Miralles 2020 - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.154A>C r.(?) p.(Ile52Leu) - Unknown - likely benign g.56772300A>C g.58694939A>C - - RAD51C_000005 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
?/. - c.158_160delinsTT r.(?) p.(Ser53Phefs*6) - Parent #1 - NA g.56772304_56772306delinsTT - chr17_56772304_CTA_TT - RAD51C_000085 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.164C>T r.(?) p.(Ala55Val) - Parent #1 - NA g.56772310C>T - chr17_56772310_C_T - RAD51C_000086 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.(Ala55Val) - Parent #1 - NA g.56772310C>T - chr17_56772310_C_T - RAD51C_000086 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.180T>C r.(=) p.(=) - Unknown - VUS g.56772326T>C g.58694965T>C - - RAD51C_000067 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - cancer, breast, familial - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.181_182del r.(?) p.(Leu61Alafs*11) - Unknown ACMG pathogenic g.56772327_56772328del g.58694966_58694967del - - RAD51C_000064 ACMG grading: PM2,PVS1,PP5; reported in Pritchard 2016. N Engl J Med 375: 443 - - rs754525165 Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.181_182del r.(?) p.(Leu61Alafs*11) - Parent #1 - NA g.56772327_56772328del - chr17_56772324_ACT_A - RAD51C_000064 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.189T>G r.(?) p.(Ile63Met) - Parent #1 - NA g.56772335T>G - chr17_56772335_T_G - RAD51C_000087 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.193A>G r.(?) p.(Arg65Gly) - Unknown - VUS g.56772339A>G g.58694978A>G - - RAD51C_000073 Pelttari et al. 2011. Hum Mol Genet 20: 3278; Meindl et al. 2010. Nature Genet 42: 410; Loveday et al. 2012. Nature Genet 44: 475 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-?/. 2 c.195A>G r.(?) p.(=) - Unknown - likely benign g.56772341A>G g.58694980A>G R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 2/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. 2 c.195A>G r.(?) p.(=) - Unknown - likely benign g.56772341A>G g.58694980A>G R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 1/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 - - - Australia - - 0 - - 1 Ian Campbell
-/. - c.195A>G r.(?) p.(Arg65=) - Unknown - benign g.56772341A>G g.58694980A>G RAD51C(NM_058216.1):c.195A>G (p.R65=) - RAD51C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>G r.(?) p.(Arg65=) - Unknown - likely benign g.56772341A>G g.58694980A>G RAD51C(NM_058216.1):c.195A>G (p.R65=) - RAD51C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>G r.(=) p.(=) - Parent #1 - likely benign g.56772341A>G g.58694980A>G - - RAD51C_000018 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45511291 Germline - 15/2789 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
?/. - c.198A>T r.(?) p.(Arg66Ser) - Parent #1 - NA g.56772344A>T - chr17_56772344_A_T - RAD51C_000088 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.199G>C r.(?) p.(Glu67Gln) - Parent #1 - NA g.56772345G>C - chr17_56772345_G_C - RAD51C_000089 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.200A>G r.(?) p.(Glu67Gly) - Parent #1 - NA g.56772346A>G - chr17_56772346_A_G - RAD51C_000090 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.206T>C r.(?) p.(Leu69Pro) - Parent #1 - NA g.56772352T>C - chr17_56772352_T_C - RAD51C_000091 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.212A>G r.(?) p.(Asn71Ser) - Parent #1 - NA g.56772358A>G - chr17_56772358_A_G - RAD51C_000092 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.213T>G r.(?) p.(Asn71Lys) - Parent #1 - NA g.56772359T>G - chr17_56772359_T_G - RAD51C_000093 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.217C>A r.(?) p.(Pro73Thr) - Parent #1 - NA g.56772363C>A - chr17_56772363_C_A - RAD51C_000094 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.221G>A r.(?) p.(Arg74Lys) - Parent #1 - NA g.56772367G>A - chr17_56772367_G_A - RAD51C_000095 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.224dup r.(?) p.(Tyr75*) - Parent #1 - pathogenic g.56772370dup g.58695009dup c.224_225insA - RAD51C_000029 not in 159 BRCA1/76 BRCA2 carriers - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - from a breast/ovarian cancer high-risk family F no Austria - - 0 - - 1 Christine Rappaport
+/. 2 c.224dup r.(?) p.(Tyr75*) - Parent #1 - pathogenic g.56772370dup g.58695009dup - - RAD51C_000029 not in 2912 controls PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.224dup r.(?) p.(Tyr75*) - Parent #1 - NA g.56772370dup - chr17_56772369_T_TA - RAD51C_000029 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.229G>T r.(?) p.(Gly77Cys) - Parent #1 - NA g.56772375G>T - chr17_56772375_G_T - RAD51C_000096 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.230del r.(?) p.(Gly77Valfs*24) - Unknown - pathogenic g.56772376del g.58695015del - - RAD51C_000003 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. - c.230del r.(?) p.(Gly77Valfs*24) - Parent #1 - NA g.56772376del - chr17_56772374_TG_T - RAD51C_000003 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.230del r.(?) p.(Gly77Valfs*24) - Parent #1 - NA g.56772376del - chr17_56772374_TG_T - RAD51C_000003 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.230G>C r.(?) p.(Gly77Ala) - Parent #1 - NA g.56772376G>C - chr17_56772376_G_C - RAD51C_000097 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.230G>C r.(?) p.(Gly77Ala) - Parent #1 - NA g.56772376G>C - chr17_56772376_G_C - RAD51C_000097 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.233C>T r.(?) p.(Thr78Ile) - Parent #1 - NA g.56772379C>T - chr17_56772379_C_T - RAD51C_000098 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 - 9/60466 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 - 9 BRIDGES consortium
?/. - c.233C>T r.(?) p.(Thr78Ile) - Parent #1 - NA g.56772379C>T - chr17_56772379_C_T - RAD51C_000098 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 - 12/53461 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 - 12 BRIDGES consortium
-?/. 2 c.237T>G r.(?) p.(=) - Parent #1 - likely benign g.56772383T>G g.58695022T>G - - RAD51C_000030 - - - - Germline ? 1/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - control; no personal or familial history of breast or ovarian cancer F no Austria - - 0 - - 1 Christine Rappaport
-?/. 2 c.237T>G r.(?) p.(=) - Parent #1 - likely benign g.56772383T>G g.58695022T>G - - RAD51C_000030 - - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - cancer, breast - - - F no Austria - - 0 - - 1 Christine Rappaport
-?/. 2 c.237T>G r.(?) p.(=) - Parent #1 - likely benign g.56772383T>G g.58695022T>G - - RAD51C_000030 not in 159 BRCA1/76 BRCA2 carriers - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - F no Austria - - 0 - - 1 Christine Rappaport
?/. - c.247A>G r.(?) p.(Lys83Glu) - Parent #1 - NA g.56772393A>G - chr17_56772393_A_G - RAD51C_000099 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.252G>T r.(?) p.(Lys84Asn) - Parent #1 - NA g.56772398G>T - chr17_56772398_G_T - RAD51C_000100 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.253T>G r.(?) p.(Cys85Gly) - Parent #1 - NA g.56772399T>G - chr17_56772399_T_G - RAD51C_000101 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.253T>G r.(?) p.(Cys85Gly) - Parent #1 - NA g.56772399T>G - chr17_56772399_T_G - RAD51C_000101 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.263T>C r.(?) p.(Leu88Pro) - Parent #1 - NA g.56772409T>C - chr17_56772409_T_C - RAD51C_000102 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.268_269delinsAC r.(?) p.(Leu90Thr) - Parent #1 - NA g.56772414_56772415delinsAC - chr17_56772414_CT_AC - RAD51C_000103 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.272T>C r.(?) p.(Leu91Pro) - Parent #1 - NA g.56772418T>C - chr17_56772418_T_C - RAD51C_000104 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.274G>A r.(?) p.(Glu92Lys) - Parent #1 - NA g.56772420G>A - chr17_56772420_G_A - RAD51C_000105 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.287C>G r.(?) p.(Thr96Ser) - Parent #1 - NA g.56772433C>G - chr17_56772433_C_G - RAD51C_000106 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.290A>G r.(?) p.(Gln97Arg) - Parent #1 - NA g.56772436A>G - chr17_56772436_A_G - RAD51C_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
?/. - c.296T>C r.(?) p.(Phe99Ser) - Parent #1 - NA g.56772442T>C - chr17_56772442_T_C - RAD51C_000108 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.299T>A r.(?) p.(Ile100Lys) - Parent #1 - NA g.56772445T>A - chr17_56772445_T_A - RAD51C_000109 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.308_310del r.(?) p.(Phe103del) - Unknown - VUS g.56772454_56772456del g.58695093_58695095del 308_310delTCT - RAD51C_000006 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. - c.309C>T r.(?) p.(Phe103=) - Unknown - likely benign g.56772455C>T - - - TEX14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313del r.(?) p.(Ser105Glnfs*3) - Parent #1 - NA g.56772459del - chr17_56772457_GT_G - RAD51C_000110 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.328A>G r.(?) p.(Ile110Val) - Parent #1 - NA g.56772474A>G - chr17_56772474_A_G - RAD51C_000111 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.332T>C r.(?) p.(Leu111Pro) - Unknown - VUS g.56772478T>C - - - RAD51C_000239 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 Gunnar Schmidt
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