Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026716 | SCV001189150 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-26 | criteria provided, single submitter | clinical testing | The p.T2564I variant (also known as c.7691C>T), located in coding exon 15 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7691. The threonine at codon 2564 is replaced by isoleucine, an amino acid with similar properties. A different alteration at this position, p.T2564S, was identified in two individuals from a cohort of 715 Korean patients and classified as likely benign using ACMG's standards for variant classification based population data, computational data, functional data, clinical phenotype and segregation information (Park KS et al. Genet. Med., 2016 Apr). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Sharing Clinical Reports Project |
RCV000082978 | SCV000115052 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2008-03-20 | no assertion criteria provided | clinical testing |