ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5357del (p.Ser1786fs) (rs876659482)

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) RCV000257609 SCV000324341 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000213290 SCV000276011 pathogenic Hereditary cancer-predisposing syndrome 2017-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other ACMG-defined mutation (i.e. initiation codon or gross deletion),Rarity in general population databases (dbSNP, ESP, 1000 Genomes),Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257609 SCV000327210 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000523167 SCV000618428 pathogenic not provided 2017-04-24 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.5357delG at the cDNA level and p.Ser1786IlefsX5 (S1786IfsX5) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5585delG. The normal sequence, with the base that is deleted in brackets, is ACTA[delG]TTTTTC. The deletion causes a frameshift which changes a Serine to an Isoleucine at codon 1786, and creates a premature stop codon at position 5 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.