Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112657 | SCV000300261 | 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 |
RCV000112657 | SCV000326315 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345353 | SCV002649088 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-12 | criteria provided, single submitter | clinical testing | The p.E1817* pathogenic mutation (also known as c.5449G>T), located in coding exon 21 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5449. This changes the amino acid from a glutamic acid to a stop codon within coding exon 21. This alteration has been reported in individuals with personal and/or family history consistent with hereditary breast and ovarian cancer syndrome (van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). One functional study found that this nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |
Breast Cancer Information Core |
RCV000112657 | SCV000145517 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112657 | SCV001241757 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |