ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3104A>G (p.Glu1035Gly)

dbSNP: rs1566227803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706668 SCV000835733 uncertain significance Hereditary breast ovarian cancer syndrome 2018-05-02 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 glutamic acid with glycine at codon 1035 of the BRCA2 protein (p.Glu1035Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
University of Washington Department of Laboratory Medicine, University of Washington RCV003158082 SCV003851687 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Ambry Genetics RCV003158082 SCV005097540 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-06 criteria provided, single submitter clinical testing The p.E1035G variant (also known as c.3104A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 3104. The glutamic acid at codon 1035 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly 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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