ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.290C>G (p.Thr97Arg) (rs431825393)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197536 SCV000254965 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 97 of the BRCA1 protein (p.Thr97Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine 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: 96909). Experimental studies have shown that this missense change disrupted the E3 ubiquitin ligase activity and the binding ability of BRCA1 protein to the BARD1 RING domain (PMID: 25823446). 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.
Ambry Genetics RCV000217842 SCV000274180 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-19 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Counsyl RCV000083030 SCV000489325 uncertain significance Breast-ovarian cancer, familial 1 2016-09-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083030 SCV000115104 uncertain significance Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000083030 SCV001238220 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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