Total submissions: 2
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 |