Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000077533 | SCV000299871 | 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. |
| Ambry Genetics | RCV000213487 | SCV000276535 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-25 | criteria provided, single submitter | clinical testing | The c.3013delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3013, causing a translational frameshift with a predicted alternate stop codon (p.E1005Nfs*19). This mutation (designated as 3131delG) was reported in a breast cancer family in the literature (Goelen G et al. J. Med. Genet. 1999 Apr;36:304-8). 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. |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000077533 | SCV000325527 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000213487 | SCV000909324 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Invitae | RCV001387504 | SCV001588157 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-02-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected or suspected of being affected with hereditary breast/ovarian cancer (PMID: 10227398, 22762150). This variant is also known as 3131delG in the literature. This sequence change deletes 1 nucleotide from exon 10 of the BRCA1 mRNA (c.3013delG), causing a frameshift at codon 1005. This creates a premature translational stop signal (p.Glu1005Asnfs*19) and is expected to result in an absent or disrupted protein product. |
| Sharing Clinical Reports Project |
RCV000077533 | SCV000109334 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-05-03 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000077533 | SCV000144608 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |