ClinVar Miner

Submissions for variant NM_007294.3:c.3764insA

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.