ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9068C>G (p.Ala3023Gly)

dbSNP: rs2072910026
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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 RCV001203801 SCV001374978 uncertain significance Hereditary breast ovarian cancer syndrome 2019-09-01 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glycine 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. 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 alanine with glycine at codon 3023 of the BRCA2 protein (p.Ala3023Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine.
Ambry Genetics RCV004950316 SCV005548709 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-28 criteria provided, single submitter clinical testing The p.A3023G variant (also known as c.9068C>G), located in coding exon 22 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9068. The alanine at codon 3023 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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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