ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5179A>C (p.Lys1727Gln) (rs80357347)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480732 SCV000564749 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5179A>C at the cDNA level, p.Lys1727Gln (K1727Q) at the protein level, and results in the change of a Lysine to a Glutamine (AAA>CAA). Using alternate nomenclature, this variant would be defined as BRCA1 5298A>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Lys1727Gln was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Lysine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Lys1727Gln occurs at a position that is conserved among mammals and is located within the BRCT1 domain (UniProt, Roy 2012). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Lys1727Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.

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