Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661853 | SCV000784178 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Gene |
RCV000478121 | SCV000570516 | pathogenic | not provided | 2016-05-31 | criteria provided, single submitter | clinical testing | This deletion of one nucleotide in BRCA2 is denoted c.15delC at the cDNA level and p.Glu7ArgfsX18 (E7RfsX18) at the protein level. The normal sequence, with the base that is deleted in braces, is GATC[C]AAAG. The deletion causes a frameshift which changes a Glutamic Acid to an Arginine at codon 7, and creates a premature stop codon at position 18 of the new reading frame. Using alternate nomenclature, this variant would be defined as BRCA2 243delC. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. |
Ambry Genetics | RCV001012309 | SCV001172742 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-26 | criteria provided, single submitter | clinical testing | The c.15delC pathogenic mutation, located in coding exon 1 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 15, causing a translational frameshift with a predicted alternate stop codon (p.E7Rfs*18). 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. |
Fulgent Genetics, |
RCV002496866 | SCV002814042 | likely pathogenic | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 | 2022-01-03 | criteria provided, single submitter | clinical testing |