Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111580 | SCV000299570 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV000509869 | SCV000607950 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-09 | criteria provided, single submitter | clinical testing | The c.1276delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1276, causing a translational frameshift with a predicted alternate stop codon (p.S426Qfs*4). 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. |
Breast Cancer Information Core |
RCV000111580 | SCV000144048 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1997-11-14 | no assertion criteria provided | clinical testing |