ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3049G>C (p.Glu1017Gln)

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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 RCV002444074 SCV002753546 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-21 criteria provided, single submitter clinical testing The p.E1017Q variant (also known as c.3049G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 3049. The glutamic acid at codon 1017 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV002444074 SCV003849161 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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