ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) (rs56249050)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000758898 SCV000072489 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132250 SCV000187333 likely benign Hereditary cancer-predisposing syndrome 2015-10-04 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)
GeneDx RCV000445221 SCV000518764 likely benign not specified 2016-06-14 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.
Color RCV000132250 SCV000683648 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000077337 SCV000786380 uncertain significance Breast-ovarian cancer, familial 2 2018-04-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758898 SCV000887823 likely benign not provided 2018-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000445221 SCV000918863 uncertain significance not specified 2017-09-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4718G>A (p.Cys1573Tyr) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 2/245866 control chromosomes at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in individuals affected with breast cancer (Spitzer 2000, He 2016), without strong evidence for causality (i.e. no co-occurrence and co-segregation data were included). Also, in one reported cancer case, a pathogenic allele was also identified in BRCA1 (c.1687C>T (p.Q563X)), which suggests that the variant of interest was not the primary cause of disease (Tutt 2010). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS/likely benign/benign however not enough information was provided for independent evaluation. Taken together, this variant is classified as VUS - possibly benign.
Sharing Clinical Reports Project (SCRP) RCV000077337 SCV000109134 benign Breast-ovarian cancer, familial 2 2012-03-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077337 SCV000146474 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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