ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.943A>G (p.Arg315Gly) (rs80357050)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481816 SCV000570228 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.943A>G at the cDNA level, p.Arg315Gly (R315G) at the protein level, and results in the change of an Arginine to a Glycine (AGG>GGG). Using alternate nomenclature, this variant would be defined as BRCA1 1062A>G. This variant was observed in at least one African American individual with breast cancer (Olopade 2003). BRCA1 Arg315Gly 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 Arginine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Arg315Gly occurs at a position that is not conserved and is located in the region known for interaction 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 Arg315Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111514 SCV000143957 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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