ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)

dbSNP: rs1555602592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588788 SCV000699669 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1679A>T (p.Asn560Ile) variant involves the alteration of a conserved nucleotide that 3/4 in silico tools (SNPs&GO and MutationTaster not captured due to low reliability index and p-value, respectively) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Labcorp Genetics (formerly Invitae), Labcorp RCV001367564 SCV001563918 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2020-03-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 496481). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with isoleucine at codon 560 of the BRIP1 protein (p.Asn560Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine.

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