ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1015A>G (p.Lys339Glu) (rs55842957)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417490 SCV000517462 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1015A>G at the cDNA level, p.Lys339Glu (K339E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAG>GAG). Using alternate nomenclature, this variant would be defined as BRCA1 1134A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Lys339Glu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Lys339Glu occurs at a position that is not conserved and is located in a region known to interact with multiple proteins (Paul 2014). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Lys339Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000776162 SCV000911225 benign Hereditary cancer-predisposing syndrome 2016-07-27 criteria provided, single submitter clinical testing
Invitae RCV000417490 SCV001012828 likely benign not provided 2019-01-20 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
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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