Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112292 | SCV000300090 | 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 |
RCV000112292 | SCV000325892 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022019 | SCV001183707 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing | The c.4195_4196delAC pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 4195 to 4196, causing a translational frameshift with a predicted alternate stop codon (p.T1399Hfs*4). This mutation, designated 4314_4315delAC, has been reported in 1/624 Spanish patients and families with breast and/or ovarian cancer (Díez O et al. Hum. Mutat., 2003 Oct;22:301-12). 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. |
Breast Cancer Information Core |
RCV000112292 | SCV000145024 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |