ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)

dbSNP: rs754515912
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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 RCV001026725 SCV001189162 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing The p.A257T variant (also known as c.769G>A), located in coding exon 6 of the BRIP1 gene, results from a G to A substitution at nucleotide position 769. The alanine at codon 257 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862380 SCV002256424 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-03-08 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. 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: 827203). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 257 of the BRIP1 protein (p.Ala257Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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