Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
RCV000112542 | SCV000145366 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-12-30 | no assertion criteria provided | clinical testing |