Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024950 | SCV001187048 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-10 | criteria provided, single submitter | clinical testing | The c.6151_6152delAA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 6151 to 6152, causing a translational frameshift with a predicted alternate stop codon (p.N2051Ffs*8). 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. |