ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4614_4615delinsTT (p.Gln1538His) (rs730881464)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159926 SCV000210051 uncertain significance not specified 2014-01-15 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4614_4615delGCinsTT GC>TT at the cDNA level, p.Gln1538His (Q1538H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Gln1538His 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 semi-conservative substitution in which a neutral polar amino acid is replaced with a positive polar one, altering a position that is moderately conserved throughout evolution and is not located in a known functional domain. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Gln1538His is pathogenic or benign. We consider it to be a variant of uncertain significance.

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