ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) (rs80359051)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203629 SCV000073433 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129422 SCV000184192 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
GeneDx RCV000045420 SCV000210666 likely benign not specified 2017-02-22 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000083143 SCV000267816 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000045420 SCV000600783 likely benign not specified 2017-03-02 criteria provided, single submitter clinical testing
Counsyl RCV000083143 SCV000784898 uncertain significance Breast-ovarian cancer, familial 2 2017-02-07 criteria provided, single submitter clinical testing
Color RCV000129422 SCV000910968 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045420 SCV000918918 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8090G>A (p.Ser2697Asn) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 12/277056 control chromosomes at a frequency of 0.0000433, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been reported in affected individuals in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign, including the variant co-occurring in three individuals with pathogenic BRCA2 c.1800T>G, p.Tyr600X (UMD, BIC). Taken together, this variant is classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000083143 SCV000115217 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083143 SCV000147271 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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