ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) (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 Health, Inc RCV000776162 SCV000911225 benign Hereditary cancer-predisposing syndrome 2016-07-27 criteria provided, single submitter clinical testing
Invitae RCV001085581 SCV001012828 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-29 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 2019-02-14 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 Praxis fuer Humangenetik Tuebingen RCV000417490 SCV001747810 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001664386 SCV001878166 uncertain significance Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000083015 SCV000115089 benign Breast-ovarian cancer, familial 1 2012-03-23 no assertion criteria provided clinical testing

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