ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)

dbSNP: rs146031731
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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 RCV001015961 SCV001176857 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-11 criteria provided, single submitter clinical testing The p.R855S variant (also known as c.2563C>A), located in coding exon 17 of the BRIP1 gene, results from a C to A substitution at nucleotide position 2563. The arginine at codon 855 is replaced by serine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001873269 SCV002215411 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-03-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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 BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 821489). This sequence change replaces arginine with serine at codon 855 of the BRIP1 protein (p.Arg855Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.

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