Full data view for gene NBN

Information The variants shown are described using the NM_002485.4 transcript reference sequence.

908 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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.-2C>T r.(?) p.(=) Parent #1 - benign g.90996791G>A g.89984563G>A - - NBN_000160 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs202104448 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.90996788A>G g.89984560A>G - - NBN_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.? p.? Parent #1 - NA g.90996788A>G - chr8_90996788_A_G - NBN_000177 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.8A>G r.(?) p.(Lys3Arg) Parent #1 - NA g.90996782T>C - chr8_90996782_T_C - NBN_000582 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.11T>C r.(?) p.(Leu4Pro) Parent #1 - VUS g.90996779A>G g.89984551A>G - - NBN_000161 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.11T>G r.(?) p.(Leu4Arg) Parent #1 - NA g.90996779A>C - chr8_90996779_A_C - NBN_000581 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.16C>T r.(?) p.(Pro6Ser) Parent #1 - NA g.90996774G>A - chr8_90996774_G_A - NBN_000580 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
?/. - c.16C>T r.(?) p.(Pro6Ser) Parent #1 - NA g.90996774G>A - chr8_90996774_G_A - NBN_000580 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. 1 c.18C>G r.(?) p.(=) Parent #1 - VUS g.90996772G>C g.89984544G>C - - NBN_000158 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2 Yukihide Momozawa
?/. 1 c.18C>G r.(?) p.(=) Parent #1 - VUS g.90996772G>C g.89984544G>C - - NBN_000158 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 9/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 9 Yukihide Momozawa
?/. - c.18C>G r.(?) p.(=) Parent #1 - VUS g.90996772G>C g.89984544G>C - - NBN_000158 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 5/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 5 Yukihide Momozawa
?/. - c.19G>A r.(?) p.(Ala7Thr) Parent #1 - VUS g.90996771C>T g.89984543C>T - - NBN_000159 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780779 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.26G>A r.(?) p.(Gly9Asp) Parent #1 - NA g.90996764C>T - chr8_90996764_C_T - NBN_000579 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.32C>T r.(?) p.(Ala11Val) Parent #1 - VUS g.90996758G>A g.89984530G>A - - NBN_000156 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2 Yukihide Momozawa
?/. 1 c.32C>T r.(?) p.(Ala11Val) Parent #1 - VUS g.90996758G>A g.89984530G>A - - NBN_000156 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 3/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 3 Yukihide Momozawa
?/. - c.32C>T r.(?) p.(Ala11Val) Parent #1 - VUS g.90996758G>A g.89984530G>A - - NBN_000156 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.36A>C r.(?) p.(=) Parent #1 - VUS g.90996754T>G g.89984526T>G - - NBN_000157 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
+?/. - c.37+1G>A r.spl? p.? Parent #1 - likely pathogenic g.90996752C>T g.89984524C>T - - NBN_000182 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs574673404 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.37+5G>A r.spl? p.? Unknown - benign g.90996748C>T g.89984520C>T NBN(NM_002485.5):c.37+5G>A - NBN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38-10T>A r.(=) p.(=) Unknown - likely benign g.90995093A>T - NBN(NM_002485.4):c.38-10T>A - NBN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38-2A>G r.spl? p.? Parent #1 - NA g.90995085T>C - chr8_90995085_T_C - NBN_000578 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.40_42del r.(?) p.(Glu14del) Parent #1 - VUS g.90995080_90995082del g.89982852_89982854del - - NBN_000155 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.42A>C r.(?) p.(Glu14Asp) Parent #1 - NA g.90995079T>G - chr8_90995079_T_G - NBN_000577 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.52C>T r.(?) p.(Leu18Phe) Parent #1 - VUS g.90995069G>A g.89982841G>A - - NBN_000153 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.55_56del r.(?) p.(Leu19Aspfs*4) Parent #1 - NA g.90995067_90995068del - chr8_90995064_CAA_C - NBN_000576 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.55_56del r.(?) p.(Leu19Aspfs*4) Parent #1 - NA g.90995067_90995068del - chr8_90995064_CAA_C - NBN_000576 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.60del r.(?) p.(Gly21Alafs*14) Parent #1 - NA g.90995061del - chr8_90995060_CA_C - NBN_000575 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.64G>A r.(?) p.(Val22Ile) Parent #1 - NA g.90995057C>T - chr8_90995057_C_T - NBN_000574 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.64G>A r.(?) p.(Val22Ile) Parent #1 - NA g.90995057C>T - chr8_90995057_C_T - NBN_000574 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.68A>T r.(?) p.(Glu23Val) Parent #1 - VUS g.90995053T>A g.89982825T>A - - NBN_000154 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.70T>C r.(?) p.(Tyr24His) Parent #1 - NA g.90995051A>G - chr8_90995051_A_G - NBN_000573 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.73G>A r.(?) p.(Val25Ile) Parent #1 - NA g.90995048C>T - chr8_90995048_C_T - NBN_000572 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.73G>A r.(?) p.(Val25Ile) Parent #1 - NA g.90995048C>T - chr8_90995048_C_T - NBN_000572 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.75dup r.(?) p.(Val26Cysfs*11) Parent #1 - NA g.90995047dup - chr8_90995045_C_CA - NBN_000571 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.77T>C r.(?) p.(Val26Ala) Parent #1 - NA g.90995044A>G - chr8_90995044_A_G - NBN_000570 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 - 7/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
?/. - c.82A>G r.(?) p.(Arg28Gly) Parent #1 - NA g.90995039T>C - chr8_90995039_T_C - NBN_000569 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.83G>A r.(?) p.(Arg28Lys) Parent #1 - NA g.90995038C>T - chr8_90995038_C_T - NBN_000568 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.84G>T r.(?) p.(Arg28Ser) Parent #1 - VUS g.90995037C>A g.89982809C>A - - NBN_000152 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.85A>G r.(?) p.(Lys29Glu) Parent #1 - NA g.90995036T>C - chr8_90995036_T_C - NBN_000567 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.86A>G r.(?) p.(Lys29Arg) Parent #1 - NA g.90995035T>C - chr8_90995035_T_C - NBN_000565 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.88A>C r.(?) p.(Asn30His) Parent #1 - NA g.90995033T>G - chr8_90995033_T_G - NBN_000564 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.88A>G r.(?) p.(Asn30Asp) Parent #1 - NA g.90995033T>C - chr8_90995033_T_C - NBN_000563 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.88_89del r.(?) p.(Asn30Leufs*6) Parent #1 - NA g.90995035_90995036del - chr8_90995031_GTT_G - NBN_000566 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.88_89del r.(?) p.(Asn30Leufs*6) Parent #1 - NA g.90995035_90995036del - chr8_90995031_GTT_G - NBN_000566 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.91T>C r.(?) p.(Cys31Arg) Parent #1 - NA g.90995030A>G - chr8_90995030_A_G - NBN_000562 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.91T>C r.(?) p.(Cys31Arg) Parent #1 - NA g.90995030A>G - chr8_90995030_A_G - NBN_000562 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. - c.102G>A r.(?) p.(Leu34=) Unknown - benign g.90995019C>T g.89982791C>T NBN(NM_002485.4):c.102G>A (p.L34=), NBN(NM_002485.5):c.102G>A (p.L34=) - NBN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102G>A r.(?) p.(Leu34=) Unknown - benign g.90995019C>T g.89982791C>T NBN(NM_002485.4):c.102G>A (p.L34=), NBN(NM_002485.5):c.102G>A (p.L34=) - NBN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.102G>A r.(?) p.(=) Parent #1 - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 3486/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 3486 Yukihide Momozawa
-/. 1 c.102G>A r.(?) p.(=) Parent #1 - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 5525/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 5525 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Both (homozygous) - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 1782/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1782 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Both (homozygous) - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 2858/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 2858 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Both (homozygous) - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 22/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 22 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Parent #1 - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 16/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 16 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Both (homozygous) - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 3157/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 3157 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(=) Parent #1 - benign g.90995019C>T g.89982791C>T - - NBN_000052 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1063045 Germline - 6182/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 6182 Yukihide Momozawa
-/. - c.102G>A r.(?) p.(Leu34=) Unknown - benign g.90995019C>T g.89982791C>T NBN(NM_002485.4):c.102G>A (p.L34=), NBN(NM_002485.5):c.102G>A (p.L34=) - NBN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.102G>A r.(?) p.(Leu34=) Unknown - benign g.90995019C>T g.89982791C>T - - NBN_000052 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
?/. 1 c.104T>C r.(?) p.(Ile35Thr) Parent #1 - VUS g.90995017A>G g.89982789A>G - - NBN_000149 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780773 Germline - 7/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 7 Yukihide Momozawa
?/. - c.104T>C r.(?) p.(Ile35Thr) Parent #1 - VUS g.90995017A>G g.89982789A>G - - NBN_000149 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780773 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.104T>C r.(?) p.(Ile35Thr) Unknown - VUS g.90995017A>G g.89982789A>G NBN(NM_002485.4):c.104T>C (p.I35T) - NBN_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104T>C r.(?) p.(Ile35Thr) Parent #1 - NA g.90995017A>G - chr8_90995017_A_G - NBN_000149 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 - 12/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 12 BRIDGES consortium
?/. - c.104T>C r.(?) p.(Ile35Thr) Parent #1 - NA g.90995017A>G - chr8_90995017_A_G - NBN_000149 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 - 11/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 11 BRIDGES consortium
?/. - c.105T>A r.(?) p.(=) Parent #1 - VUS g.90995016A>T g.89982788A>T - - NBN_000151 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs78870221 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.105T>G r.(?) p.(Ile35Met) Parent #1 - NA g.90995016A>C - chr8_90995016_A_C - NBN_000561 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 - 7/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
?/. - c.105T>G r.(?) p.(Ile35Met) Parent #1 - NA g.90995016A>C - chr8_90995016_A_C - NBN_000561 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.111T>A r.(?) p.(Asn37Lys) Parent #1 - NA g.90995010A>T - chr8_90995010_A_T - NBN_000560 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.113A>T r.(?) p.(Asp38Val) Parent #1 - NA g.90995008T>A - chr8_90995008_T_A - NBN_000559 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.113A>T r.(?) p.(Asp38Val) Parent #1 - NA g.90995008T>A - chr8_90995008_T_A - NBN_000559 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.115C>T r.(?) p.(Gln39*) Parent #1 - NA g.90995006G>A - chr8_90995006_G_A - NBN_000558 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.116A>G r.(?) p.(Gln39Arg) Parent #1 - NA g.90995005T>C - chr8_90995005_T_C - NBN_000557 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.119C>T r.(?) p.(Ser40Leu) Parent #1 - NA g.90995002G>A - chr8_90995002_G_A - NBN_000556 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.119C>T r.(?) p.(Ser40Leu) Parent #1 - NA g.90995002G>A - chr8_90995002_G_A - NBN_000556 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.120G>A r.(?) p.(=) Parent #1 - VUS g.90995001C>T g.89982773C>T - - NBN_000150 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.121A>T r.(?) p.(Ile41Phe) Parent #1 - NA g.90995000T>A - chr8_90995000_T_A - NBN_000555 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.121A>T r.(?) p.(Ile41Phe) Parent #1 - NA g.90995000T>A - chr8_90995000_T_A - NBN_000555 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.133C>G r.(?) p.(His45Asp) Parent #1 - NA g.90994988G>C - chr8_90994988_G_C - NBN_000554 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.133C>T r.(?) p.(His45Tyr) Parent #1 - VUS g.90994988G>A g.89982760G>A - - NBN_000148 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs773865323 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.134A>G r.(?) p.(His45Arg) Parent #1 - NA g.90994987T>C - chr8_90994987_T_C - NBN_000553 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.138T>C r.(?) p.(=) Parent #1 - VUS g.90994983A>G g.89982755A>G - - NBN_000147 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.140T>C r.(?) p.(Val47Ala) Parent #1 - NA g.90994981A>G - chr8_90994981_A_G - NBN_000552 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.146C>T r.(?) p.(Thr49Ile) Parent #1 - NA g.90994975G>A - chr8_90994975_G_A - NBN_000551 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.146C>T r.(?) p.(Thr49Ile) Parent #1 - NA g.90994975G>A - chr8_90994975_G_A - NBN_000551 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.148G>A r.(?) p.(Ala50Thr) Parent #1 - NA g.90994973C>T - chr8_90994973_C_T - NBN_000550 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.151A>T r.(?) p.(Asn51Tyr) Parent #1 - VUS g.90994970T>A g.89982742T>A - - NBN_000146 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.156_157del r.(?) p.(Ser53Cysfs*9) Parent #1 - NA g.90994966_90994967del - chr8_90994963_GAA_G - NBN_000548 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 - 10/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 10 BRIDGES consortium
?/. - c.156_157del r.(?) p.(Ser53Cysfs*9) Parent #1 - NA g.90994966_90994967del - chr8_90994963_GAA_G - NBN_000548 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 - 5/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
?/. - c.157dup r.(?) p.(Ser53Phefs*10) Parent #1 - NA g.90994967dup - chr8_90994963_G_GA - NBN_000549 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.157dup r.(?) p.(Ser53Phefs*10) Parent #1 - NA g.90994967dup - chr8_90994963_G_GA - NBN_000549 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.160G>A r.(?) p.(Val54Ile) Parent #1 - NA g.90994961C>T - chr8_90994961_C_T - NBN_000547 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.168C>G r.(?) p.(Asn56Lys) Parent #1 - NA g.90994953G>C - chr8_90994953_G_C - NBN_000546 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.171+1G>A r.spl? p.? Parent #1 - NA g.90994949C>T - chr8_90994949_C_T - NBN_000545 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+?/. - c.171+1G>A r.spl? p.? Unknown - likely pathogenic g.90994949C>T - NBN(NM_002485.4):c.171+1G>A (p.?) - NBN_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.171+1G>A r.spl? p.? Unknown - likely pathogenic g.90994949C>T - NBN(NM_002485.4):c.171+1G>A (p.?) - NBN_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>A r.(?) p.(Thr60Lys) Parent #1 - NA g.90993744G>T - chr8_90993744_G_T - NBN_000544 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.181G>A r.(?) p.(Asp61Asn) Parent #1 - VUS g.90993742C>T g.89981514C>T - - NBN_000142 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 3/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 3 Yukihide Momozawa
?/. - c.181G>A r.(?) p.(Asp61Asn) Parent #1 - VUS g.90993742C>T g.89981514C>T - - NBN_000142 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.181_182del r.(?) p.(Asp61*) Parent #1 - NA g.90993742_90993743del - chr8_90993740_ATC_A - NBN_000543 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 - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.182A>G r.(?) p.(Asp61Gly) Parent #1 - NA g.90993741T>C - chr8_90993741_T_C - NBN_000542 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 - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.188T>A r.(?) p.(Ile63Asn) Parent #1 - VUS g.90993735A>T g.89981507A>T - - NBN_000145 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
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