Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071210 | SCV001236501 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-09-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1569*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 864101). |
Ambry Genetics | RCV002339348 | SCV002637929 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-03-17 | criteria provided, single submitter | clinical testing | The p.Y1569* pathogenic mutation (also known as c.4707C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 4707. This changes the amino acid from a tyrosine to a stop codon within coding exon 10. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |