ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3655G>A (p.Glu1219Lys)

dbSNP: rs80356921
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048274 SCV000076287 benign Hereditary breast ovarian cancer syndrome 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129819 SCV000184633 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-24 criteria provided, single submitter clinical testing The p.E1219K variant (also known as c.3655G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3655. The glutamic acid at codon 1219 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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.
GeneDx RCV001569902 SCV001794070 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31131967, 23704879, 15385441)
University of Washington Department of Laboratory Medicine, University of Washington RCV000129819 SCV003846329 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001569902 SCV004219367 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000004 (1/251304 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported as a variant of uncertain significance (PMID: 16267036 (2005)). Additionally, studies utilizing prediction models to assess the variant have reported it both as likely benign (PMID: 31131967 (2019)) and as deleterious (PMIDs: 15385441 (2004) and 23704879 (2013)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112148 SCV000144826 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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