ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2209del (p.Thr737fs) (rs1060502333)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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) RCV000661163 SCV000783417 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657471 SCV000779206 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2209delA at the cDNA level and p.Thr737GlnfsX16 (T737QfsX16) at the protein level. The normal sequence, with the base that is deleted in brackets, is AGAA[delA]CAGT. The deletion causes a frameshift which changes a Threonine to a Glutamine at codon 737, and creates a premature stop codon at position 16 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.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785385 SCV000923956 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000461584 SCV000549290 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 737 (p.Thr737Glnfs*16) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as 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.