ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2983A>C (p.Lys995Gln)

dbSNP: rs879255315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017785 SCV001178929 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-14 criteria provided, single submitter clinical testing The p.K995Q variant (also known as c.2983A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 2983. The lysine at codon 995 is replaced by glutamine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001017785 SCV003849212 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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