ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9501+9A>C (rs81002867)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000045840 SCV000602802 benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031826 SCV000147654 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000580804 SCV000684067 benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Counsyl RCV000031826 SCV000220564 likely benign Breast-ovarian cancer, familial 2 2014-07-31 criteria provided, single submitter literature only
GeneDx RCV000045840 SCV000210688 benign not specified 2014-08-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000203671 SCV000916377 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000587709 SCV000695246 benign not provided 2016-04-07 criteria provided, single submitter clinical testing Variant Summary: The c.9501+9A>C variant is a BRCA2 intronic variant located at a position not widely known to affect splicing. 4/5 splicing prediction programs (via Alamut) suggest no significant effect on splicing, ESE finder predicts no change to binding motifs, and Mutation Taster predicts the variant to be a polymorphism. The observed allele frequency in controls including the large and diverse ExAC cohort is 4/121488(1/30372), which does not exceed the maximal expected alelle frequency for a pathogenic BRCA2 variant (1/1333). However, it has been reported to co-occur with several potentially pathogenic variant in BRCA2 (c.5909C>A, p.Ser1970X - UMD; BRCA2 c.5410_5411delGT (p.Val1804Lysfs) - BIC; BRCA2 c.9382C>T (p.Arg3128Ter) - BIC and BRCA1 IVS3+3A>C (Claes_2003). In addition, multiple reputable databases/clinical diagnostic labs (UMD, GeneDx, and SCRP) and publications (Lindor_2012 and Easton_2007) classify the variant as benign/neutral. Furthermore, functional studies from multiple independent publications report that the variant of interest does not affect splicing (Campos_2003, Claes_2003, Houdayer_2012, and Whiley_2011). Taken together, this BRCA2 intronic variant has been classified as Benign.
Invitae RCV000203671 SCV000073853 benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031826 SCV000054434 benign Breast-ovarian cancer, familial 2 2008-10-06 no assertion criteria provided clinical testing

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