Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159922 | SCV000210047 | pathogenic | Familial cancer of breast | 2014-10-01 | criteria provided, single submitter | clinical testing | This insertion of one nucleotide in BRCA1 is denoted c.3764_3765insA (a.k.a c.3764dupA) at the cDNA level and p.Asn1255LysfsX12 (N1255KfsX12) at the protein level. The normal sequence, with the bases that are inserted in brackets, is AGAA{insA}CACA. The insertion causes a frameshift, which changes an Asparagine to a Lysine at codon 1255 in exon 10, and creates a premature stop codon at position 12 of the new reading frame. This mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3764_3765insA (a.k.a c.3764dupA), previously denoted 3883insA, has been reported in association with hereditary breast cancer in an African American family (Gao 1997). We consider this mutation to be pathogenic.The variant is found in HEREDICANCER panel(s). |