ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) (rs80358941)

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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 RCV000164923 SCV000215611 likely benign Hereditary cancer-predisposing syndrome 2017-02-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031665 SCV000147021 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000164923 SCV000689030 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000031665 SCV000488188 uncertain significance Breast-ovarian cancer, familial 2 2016-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000045142 SCV000210644 likely benign not specified 2017-07-03 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.
Invitae RCV000225749 SCV000073155 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2366 of the BRCA2 protein (p.Leu2366Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs80358941, ExAC 0.003%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38083). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000679185 SCV000805757 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031665 SCV000054272 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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