ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7673A>T (p.Glu2558Val)

gnomAD frequency: 0.00001  dbSNP: rs398122589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695567 SCV000824076 uncertain significance Hereditary breast ovarian cancer syndrome 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 2558 of the BRCA2 protein (p.Glu2558Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91490). This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV001026693 SCV001189123 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing The p.E2558V variant (also known as c.7673A>T), located in coding exon 15 of the BRCA2 gene, results from an A to T substitution at nucleotide position 7673. The glutamic acid at codon 2558 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sharing Clinical Reports Project (SCRP) RCV000077007 SCV000108804 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2012-10-09 no assertion criteria provided clinical testing

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