ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)

dbSNP: rs1567837564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759000 SCV000888004 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855913 SCV002131523 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-06-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 306 of the BRIP1 protein (p.Asn306Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. 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: 619664). This variant is not present in population databases (ExAC no frequency).

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