ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4460A>G (p.Lys1487Arg) (rs80357126)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484068 SCV000566064 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4460A>G at the cDNA level, p.Lys1487Arg (K1487R) at the protein level, and results in the change of a Lysine to an Arginine (AAA>AGA). Using alternate nomenclature, this variant would be defined as BRCA1 4579A>G. Functional analysis demonstrated that this variant results in a decrease in transcriptional activity (Carvalho 2009). Abkevich et al. (2004) classified this variant as neutral based on interspecific sequence variation. BRCA1 Lys1487Arg was not observed in large population cohorts (Lek 2016). This variant is located in the SCD domain and a region known to interact with multiple other proteins (Chen 1998, Narod 2004, Clark 2012). 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 BRCA1 Lys1487Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000561849 SCV000661071 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000561849 SCV000909025 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083208 SCV000115282 uncertain significance Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083208 SCV000145090 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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