ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5477A>T (p.Gln1826Leu) (rs730881499)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160011 SCV000210225 uncertain significance not provided 2014-03-26 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5477A>T at the cDNA level, p.Gln1826Leu (Q1826L) at the protein level, and results in the change of a Glutamine to a Leucine (CAG>CTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gln1826Leu 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 Glutamine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution and is likely to affect protein integrity. BRCA1 Gln1826Leu occurs at a position that is well conserved across species and is located in the BRCT2 domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA1 Gln1826Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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