ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)

gnomAD frequency: 0.00001  dbSNP: rs55842957
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417490 SCV000517462 uncertain significance not provided 2019-11-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31131967)
Color Diagnostics, LLC DBA Color Health RCV000776162 SCV000911225 benign Hereditary cancer-predisposing syndrome 2016-07-27 criteria provided, single submitter clinical testing
Invitae RCV001085581 SCV001012828 likely benign Hereditary breast ovarian cancer syndrome 2024-01-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417490 SCV001133472 uncertain significance not provided 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776162 SCV001178022 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-14 criteria provided, single submitter clinical testing The p.K339E variant (also known as c.1015A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1015. The lysine at codon 339 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well 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.
CeGaT Center for Human Genetics Tuebingen RCV000417490 SCV001747810 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000776162 SCV003846231 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).
Sharing Clinical Reports Project (SCRP) RCV000083015 SCV000115089 benign Breast-ovarian cancer, familial, susceptibility to, 1 2012-03-23 no assertion criteria provided clinical testing

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