ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1600G>A (p.Glu534Lys) (rs276174810)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131321 SCV000186294 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031330 SCV000145896 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000131321 SCV000688713 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000031330 SCV000785626 uncertain significance Breast-ovarian cancer, familial 2 2017-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000215004 SCV000279592 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1600G>A at the cDNA level, p.Glu534Lys (E534K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAA>AAA). This variant, previously published as 1828G>A using alternate nomenclature, has been reported in at least one individual with breast cancer (Thirthagiri 2008). BRCA2 Glu534Lys 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 Glu534Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031330 SCV000053935 uncertain significance Breast-ovarian cancer, familial 2 2010-07-12 no assertion criteria provided clinical testing

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