ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) (rs80358799)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132499 SCV000187593 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031573 SCV000146683 uncertain significance Breast-ovarian cancer, familial 2 2000-08-16 no assertion criteria provided clinical testing
Color RCV000132499 SCV000903292 benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Counsyl RCV000031573 SCV000489248 uncertain significance Breast-ovarian cancer, familial 2 2016-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000212244 SCV000108628 likely benign not specified 2018-02-15 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 RCV000586429 SCV000694896 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5737T>C (p.Cys1913Arg) variant involves the alteration of a non-conserved nucleotide with 3/5 in silico tools predicting a benign outcome, although this predictions have yet to be functionally assessed. This variant was found in the large, broad control population, ExAC, with an allele frequency of 3/120994 (40322, frequency of 0.0000248), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333 (0.0007503). The variant of interest was observed in affected individuals via publications, although with limited information (ie lack of co-occurrence and co-segregation data). However, a reputable database cites the variant to co-occur with a pathogenic BRCA1 variant, c.213-12A>G (classified as pathogenic by LCA). In addition multiple reputable clinical laboratories cite the variant as "likely benign/benign," however, with no additional data to perform an independent evaluation. Therefore, taking all availble lines of evidence, the variant of interest is classified as a "Variant of Uncertain Significance-Possibly Benign" until additional information becomes available.
Invitae RCV000074543 SCV000072751 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-19 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586429 SCV000778690 uncertain significance not provided 2017-02-06 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031573 SCV000054179 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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