ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2434A>G (p.Lys812Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459915 SCV002737208 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-10 criteria provided, single submitter clinical testing The p.K812E variant (also known as c.2434A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2434. The lysine at codon 812 is replaced by glutamic acid, an amino acid with similar properties. This alteration was not observed in 7,051 unselected female breast cancer patients and was observed with an allele frequency of 0.00009 in 11,241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is not well conserved in available vertebrate species. 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 RCV002459915 SCV003847670 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).
GeneDx RCV004774689 SCV005384933 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2553A>G; This variant is associated with the following publications: (PMID: 30287823, 15343273)

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