ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) (rs397509243)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000508679 SCV000210208 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5243G>A at the cDNA level, p.Gly1748Asp (G1748D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). Using alternate nomenclature, this variant was previously published as BRCA1 5362G>A. This variant was observed in at least one breast/ovarian cancer family (Lalloo 2006, Judkins 2005). Transcription activation assays have demonstrated this variant to result in reduced transcription activity, compared to wild type (Woods 2016, Carvalho 2014). BRCA1 Gly1748Asp was not observed in large population cohorts (Lek 2016). This variant is located in a region known to interact with multiple proteins (Paul 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, we consider BRCA1 Gly1748Asp to be a likely pathogenic variant.
Ambry Genetics RCV000164686 SCV000215353 likely pathogenic Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing Other data supporting pathogenic classification;Deficient protein function in appropriate functional assay(s);Structural Evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508679 SCV000605909 likely pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282860 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Sharing Clinical Reports Project (SCRP) RCV000077610 SCV000109413 uncertain significance Breast-ovarian cancer, familial 1 2012-05-09 no assertion criteria provided clinical testing

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