ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9461A>G (p.His3154Arg)

dbSNP: rs2073024987
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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 RCV001202471 SCV001373584 uncertain significance Hereditary breast ovarian cancer syndrome 2019-08-10 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 3154 of the BRCA2 protein (p.His3154Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.
Baylor Genetics RCV003462675 SCV004213690 uncertain significance Familial cancer of breast 2023-08-08 criteria provided, single submitter clinical testing

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