ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8689G>T (p.Ala2897Ser)

dbSNP: rs1555288156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579893 SCV000683991 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-05 criteria provided, single submitter clinical testing This missense variant replaces alanine with serine at codon 2897 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 hereditary cancer 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.
Ambry Genetics RCV000579893 SCV001179375 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-15 criteria provided, single submitter clinical testing The p.A2897S variant (also known as c.8689G>T), located in coding exon 20 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8689. The alanine at codon 2897 is replaced by serine, an amino acid with similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001226142 SCV001398442 uncertain significance Hereditary breast ovarian cancer syndrome 2019-07-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 489792). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 2897 of the BRCA2 protein (p.Ala2897Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.

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