ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)

gnomAD frequency: 0.00001  dbSNP: rs80358599
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217936 SCV000273290 likely benign Hereditary cancer-predisposing syndrome 2019-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000031425 SCV000488148 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV001703437 SCV000512355 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18824701, 15983021, 19491284, 18951461, 24817641, 21990165, 10923033, 30212499)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000440300 SCV000600554 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000217936 SCV000911233 benign Hereditary cancer-predisposing syndrome 2016-08-08 criteria provided, single submitter clinical testing
Mendelics RCV000031425 SCV001139064 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001392166 SCV001593805 likely benign Hereditary breast ovarian cancer syndrome 2023-08-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000217936 SCV002533802 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-17 criteria provided, single submitter curation
University of Washington Department of Laboratory Medicine, University of Washington RCV000217936 SCV003846665 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
All of Us Research Program, National Institutes of Health RCV000031425 SCV004845175 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-11-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031425 SCV000054030 benign Breast-ovarian cancer, familial, susceptibility to, 2 2010-01-26 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031425 SCV000146247 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2004-02-20 no assertion criteria provided clinical testing
Department of Medical and Surgical Sciences, University of Bologna RCV000031425 SCV004228394 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-09-01 no assertion criteria provided clinical testing PP4(Moderate)+BS3(Strong)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
BRCAlab, Lund University RCV000031425 SCV004243606 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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