Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031120 | SCV000299993 | 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. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031120 | SCV000325723 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566037 | SCV000660980 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-16 | criteria provided, single submitter | clinical testing | The c.3683delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3683, causing a translational frameshift with a predicted alternate stop codon (p.H1228Pfs*7). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, 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. |
Sharing Clinical Reports Project |
RCV000031120 | SCV000053718 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2006-12-08 | no assertion criteria provided | clinical testing |