ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)

dbSNP: rs755930156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221264 SCV001393295 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2019-07-09 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with proline at codon 92 of the BRIP1 protein (p.Ser92Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline.

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