ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.478G>A (p.Gly160Arg) (rs62625285)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223465 SCV000278398 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-15 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238866 SCV000296469 uncertain significance Breast-ovarian cancer, familial 1 2016-05-17 criteria provided, single submitter clinical testing
Color RCV000223465 SCV000683216 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV000637674 SCV000759144 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 160 of the BRCA1 protein (p.Gly160Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 233928). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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