ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9481A>G (p.Lys3161Glu)

dbSNP: rs80359222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777544 SCV000913407 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001201868 SCV001372959 uncertain significance Hereditary breast ovarian cancer syndrome 2022-06-29 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. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 3161 of the BRCA2 protein (p.Lys3161Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 631356). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function.
Ambry Genetics RCV000777544 SCV005548578 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-05 criteria provided, single submitter clinical testing The p.K3161E variant (also known as c.9481A>G), located in coding exon 24 of the BRCA2 gene, results from an A to G substitution at nucleotide position 9481. The lysine at codon 3161 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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