Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000257810 | SCV000323809 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000257810 | SCV000326069 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000637699 | SCV000759170 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023305 | SCV001185162 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-21 | criteria provided, single submitter | clinical testing | The c.4945_4947delAGAinsTTTT pathogenic mutation, located in coding exon 14 of the BRCA1 gene, results from the deletion of 3 nucleotides and insertion of 4 nucleotides at positions c.4945 to c.4947, causing a translational frameshift with a predicted alternate stop codon (p.R1649Ffs*30). This mutation has been detected in multiple breast or ovarian cancer patients (Bonadona V et al. Genes Chromosomes Cancer. 2005 Aug;43:404-13; Caux-Moncoutier V et al. Hum. Mutat. 2011 Mar;32:325-34; Donenberg T et al. Breast Cancer Res. Treat. 2016 Aug;159:131-8; Donenberg T et al. Breast Cancer Res Treat 2019 Apr;174(2):469-477). Of note, this mutation is also designated as 5064delAGA/insT4-ter1678 in published literature. 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. |
Baylor Genetics | RCV000257810 | SCV004216916 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-09-02 | criteria provided, single submitter | clinical testing |