Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112222 | SCV000282320 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000112222 | SCV000325804 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268513 | SCV001447496 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354243 | SCV002623088 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-19 | criteria provided, single submitter | clinical testing | The c.3973delA variant, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3973, causing a translational frameshift with a predicted alternate stop codon (p.R1352Gfs*11). 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 |
RCV000112222 | SCV000144931 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-11-25 | no assertion criteria provided | clinical testing |