ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1501A>G (p.Lys501Glu) (rs1064793883)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481108 SCV000567268 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1501A>G at the cDNA level, p.Lys501Glu (K501E) 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 BRCA1 1620A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Lys501Glu 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 Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Lys501Glu occurs at a position that is not conserved and is located in the NLS1 and the DNA binding domain and a region know to interact with multiple other proteins (Narod 2004, Borg 2010, 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 Lys501Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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