ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6068_6072del (p.Asp2023fs) (rs80359555)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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) RCV000113523 SCV000300978 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000497281 SCV000210773 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing This deletion of five nucleotides is denoted BRCA2 c.6068_6072delACCAG at the cDNA level and p.Asp2023AlafsX24 (D2023AfsX24) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TCAG[delACCAG]CTCA. The deletion causes a frameshift, which changes an Aspartic Acid to an Alanine at codon 2023, and creates a premature stop codon at position 24 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.6068_6072delACCAG has been observed in individuals with breast cancer (female and male)(Susswein 2016, Pritzlaff 2017). We consider it to be pathogenic.
Ambry Genetics RCV000162928 SCV000213415 pathogenic Hereditary cancer-predisposing syndrome 2018-07-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000162928 SCV000688965 pathogenic Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113523 SCV000146758 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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.