ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9010A>G (p.Lys3004Glu)

dbSNP: rs954148397
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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 RCV000814470 SCV000954882 uncertain significance Hereditary breast ovarian cancer syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 3004 of the BRCA2 protein (p.Lys3004Glu). 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: 657784). 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 with a negative predictive value of 95%. 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.
Baylor Genetics RCV003461222 SCV004213712 uncertain significance Familial cancer of breast 2023-08-03 criteria provided, single submitter clinical testing

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