ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)

dbSNP: rs2061317850
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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 RCV001339642 SCV001533399 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-05-17 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1057 of the BRIP1 protein (p.Asn1057Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036605). 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.

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