ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5161_5163del (p.Gln1721del) (rs80358346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485800 SCV000571042 uncertain significance not provided 2016-07-21 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5161_5163delCAG at the cDNA level and p.Gln1721del (Q1721del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GACC[CAG]TCTA. This deletion of a single Glutamine residue occurs at a position that is not conserved and is located in the BRCT 1 domain as well as a region known to interact with multiple other proteins (Paul 2014, UniProt). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time, and we consider BRCA1 Gln1721del to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112542 SCV000145366 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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