ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter)

dbSNP: rs80358824
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
Ambry Genetics RCV000573759 SCV000664816 pathogenic Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing The p.S1970* pathogenic mutation (also known as c.5909C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 5909. This changes the amino acid from a serine to a stop codon within coding exon 10. This mutation has been identified in multiple individuals with hereditary breast and ovarian cancer (HBOC) syndrome-associated cancers, including ovarian, prostate, and breast cancers (Gayther SA et al. Nat. Genet. 1997 Jan;15:103-5; Edwards SM et al. Br. J. Cancer. 2010 Sep;103:918-24; Leongamornlert D et al. Br. J. Cancer. 2014 Mar;110:1663-72; Maxwell KN et al. Am. J. Hum. Genet. 2016 May;98:801-17). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
CZECANCA consortium RCV001271042 SCV001451861 pathogenic Breast and/or ovarian cancer 2019-06-11 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.