ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3641dup (p.Phe1216fs) (rs397507678)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257562 SCV000326890 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257562 SCV000324172 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000483680 SCV000568465 pathogenic not provided 2017-09-12 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.3641dupT at the cDNA level and p.Phe1216ValfsX2 (F1216VfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAG[T]GGGGT. The duplication causes a frameshift which changes a Phenylalanine to a Valine at codon 1216, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.3641dupT, also known as 3868insTusing alternate nomenclature, has been observed in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Csokay 1999, Tea 2014). 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.