ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn) (rs80358745)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167854 SCV000072613 likely benign Hereditary breast and ovarian cancer syndrome 2019-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000044600 SCV000210346 likely benign not specified 2018-02-14 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.
Ambry Genetics RCV000222021 SCV000272933 likely benign Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000586989 SCV000694839 uncertain significance not provided 2016-02-29 criteria provided, single submitter clinical testing Variant summary: This c.5191C>A variant affects a non-conserved nucleotide, resulting in amino acid change from His to Asn. 4/4 in-silico tools used predict this variant to be benign. This variant was found in 1/119192 control chromosomes at a frequency of 0.0000084, which does not exceed the maximal expected frequency of a pathogenic allele (0.0007503). This variant has been reported in one ovarian cancer patient without strong evidence of pathogenicity. Multiple clinical labs and a reputable database have classified this variant as having uncertain significance. Because of the limited clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.
Counsyl RCV000077348 SCV000784948 uncertain significance Breast-ovarian cancer, familial 2 2017-02-16 criteria provided, single submitter clinical testing
Color RCV000222021 SCV000910981 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077348 SCV000109145 likely benign Breast-ovarian cancer, familial 2 2012-06-06 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077348 SCV000146560 uncertain significance Breast-ovarian cancer, familial 2 2007-01-18 no assertion criteria provided clinical testing

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