ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9499G>A (p.Glu3167Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002824737 SCV003207351 uncertain significance Hereditary breast ovarian cancer syndrome 2022-06-07 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3167 of the BRCA2 protein (p.Glu3167Lys).
Ambry Genetics RCV003308297 SCV004005490 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-16 criteria provided, single submitter clinical testing The p.E3167K variant (also known as c.9499G>A), located in coding exon 24 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9499. The glutamic acid at codon 3167 is replaced by lysine, an amino acid with similar 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.

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