ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.172G>A (p.Glu58Lys) (rs397507603)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216277 SCV000274011 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000216277 SCV000683440 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-30 criteria provided, single submitter clinical testing
Counsyl RCV000077663 SCV000488840 uncertain significance Breast-ovarian cancer, familial 2 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000195636 SCV000254171 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 58 of the BRCA2 protein (p.Glu58Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs397507603, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91755). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mendelics RCV000195636 SCV000838722 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077663 SCV000109466 uncertain significance Breast-ovarian cancer, familial 2 2012-01-24 no assertion criteria provided clinical testing

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