ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7240T>G (p.Ser2414Ala)

dbSNP: rs1555286057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509968 SCV000607956 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-09 criteria provided, single submitter clinical testing The p.S2414A variant (also known as c.7240T>G), located in coding exon 13 of the BRCA2 gene, results from a T to G substitution at nucleotide position 7240. The serine at codon 2414 is replaced by alanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003570 SCV004824572 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces serine with alanine at codon 2414 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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