ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2039A>G (p.Lys680Arg) (rs730881475)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159961 SCV000210119 uncertain significance not provided 2014-01-10 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2039A>G at the cDNA level, p.Lys680Arg (K680R) at the protein level, and results in the change of a Lysine to an Arginine (AAG>AGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Lys680Arg 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. This variant is a conservative substitution of one positive polar amino acid for another, altering a position that is only moderately conserved throughout evolution and is not located in a known functional domain (UniProt). In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on the currently available information, we consider BRCA1 Lys680Arg to be a variant of uncertain significance.

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