ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3010A>G (p.Ser1004Gly) (rs398122759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565814 SCV000668553 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Counsyl RCV000077702 SCV000489468 uncertain significance Breast-ovarian cancer, familial 2 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000232614 SCV000283202 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-12-08 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1004 of the BRCA2 protein (p.Ser1004Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs398122759, ExAC 0.01%) but has not been reported in the literature. 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"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077702 SCV000109505 uncertain significance Breast-ovarian cancer, familial 2 2012-05-03 no assertion criteria provided clinical testing

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