ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.310dup (p.Ser104fs)

dbSNP: rs1555596484
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661343 SCV000783613 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000479087 SCV000565916 pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.310dupA at the cDNA level and p.Ser104LysfsX3 (S104KfsX3) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 429dupA. The surrounding sequence is AAAC[dupA]GCTA. The duplication causes a frameshift, which changes a Serine to a Lysine at codon 104, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.

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.