ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.887A>G (p.Tyr296Cys) (rs45457795)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129101 SCV000183812 likely benign Hereditary cancer-predisposing syndrome 2018-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031774 SCV000145783 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129101 SCV000684005 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000031774 SCV000488018 uncertain significance Breast-ovarian cancer, familial 2 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000168545 SCV000210258 likely benign not specified 2017-11-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000588297 SCV000695186 likely benign not provided 2016-04-06 criteria provided, single submitter clinical testing Variant summary: The c.887A>G variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools predict a neutral outcome. This variant was found in at least one patient in literature, without strong evidence for causality, and was found in 4/120458 ExAC control chromosomes. This frequency does not does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%). 4/5 Alamut in silico tools and Mucaki_BRCA_HM_2011 predict the variant of interest to strengthen a cryptic splicing donor site, however no functional studies have been performed at this time to confirm these results. The fact that the variant co-occured with a pathogenic BRCA2 variant in one individual suggests the benign role of this variant. In addition, multiple reputable clinical laboratories and databases classify the Variant as "Likely Benign" without evidence to independently evaluate. Taken together, this variant was classified as Likely Benign variant.
Invitae RCV000045647 SCV000073660 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031774 SCV000054382 likely benign Breast-ovarian cancer, familial 2 2008-08-08 no assertion criteria provided clinical testing

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