ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)

dbSNP: rs1603334596
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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 RCV001964623 SCV002203045 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-04-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 566 of the BRIP1 protein (p.Asp566Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related conditions. 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: "Possibly 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.
Ambry Genetics RCV004946898 SCV005553017 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-24 criteria provided, single submitter clinical testing The p.D566A variant (also known as c.1697A>C), located in coding exon 11 of the BRIP1 gene, results from an A to C substitution at nucleotide position 1697. The aspartic acid at codon 566 is replaced by alanine, an amino acid with dissimilar 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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