ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3728G>A (p.Arg1243Lys)

dbSNP: rs1597861763
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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 RCV001020982 SCV001182539 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-03 criteria provided, single submitter clinical testing The p.R1243K variant (also known as c.3728G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3728. The arginine at codon 1243 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by 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 RCV001020982 SCV003849918 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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