Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561996 | SCV000661340 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-07-28 | criteria provided, single submitter | clinical testing | The p.K2524* pathogenic mutation (also known as c.7570A>T), located in coding exon 14 of the BRCA2 gene, results from an A to T substitution at nucleotide position 7570. This changes the amino acid from a lysine to a stop codon within coding exon 14. 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265800 | SCV002547669 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.7570A>T (p.Lys2524X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251136 control chromosomes (gnomAD). To our knowledge, no occurrence of c.7570A>T in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |