ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) (rs56242644)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000235137 SCV000602793 uncertain significance not specified 2016-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129695 SCV000184496 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113438 SCV000146624 uncertain significance Breast-ovarian cancer, familial 2 2004-11-25 no assertion criteria provided clinical testing
Color RCV000129695 SCV000910974 likely benign Hereditary cancer-predisposing syndrome 2016-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000113438 SCV000488710 uncertain significance Breast-ovarian cancer, familial 2 2016-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000586594 SCV000210233 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.343A>G at the cDNA level, p.Lys115Glu (K115E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAA>GAA). Using alternate nomenclature, this variant would be defined as BRCA2 571A>G. This variant has been observed in an individual with ovarian cancer and in at least one other individual evaluated for cancer predisposition (Cheng 2017, Marchetti 2018). BRCA2 Lys115Glu was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Lys115Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000586594 SCV000694696 uncertain significance not provided 2015-11-27 criteria provided, single submitter clinical testing Variant summary: c.343A>G affects a non-conserved nucleotide, resulting in amino acid change from Lys to Glu. 3/5 in-silico tools predict this variant to be benign. This variant was not found in 117114 control chromosomes. In addition, multiple clinical laboratories/reputable databases classified this variant as VUS. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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