ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)

dbSNP: rs2061298409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042376 SCV001206054 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-06-04 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. ClinVar contains an entry for this variant (Variation ID: 840400). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1220 of the BRIP1 protein (p.Glu1220Gly). 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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