Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000112511 | SCV000300211 | 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. |
| Gene |
RCV000048818 | SCV000296778 | pathogenic | Familial cancer of breast | 2020-01-01 | criteria provided, single submitter | clinical testing | This sequence change deletes one nucleotide base causing a frameshift and the creation of a premature translation stop signal 2 amino acid residues later. This is expected to result in an absent or disrupted protein product. |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000112511 | SCV000326171 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000112511 | SCV000489609 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000569434 | SCV000673065 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-07-30 | criteria provided, single submitter | clinical testing | The c.5150delT pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5150, causing a translational frameshift with a predicted alternate stop codon (p.F1717Sfs*3). 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. |
| Labcorp Genetics |
RCV001389635 | SCV001591065 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe1717Serfs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is also known as 5269delT. ClinVar contains an entry for this variant (Variation ID: 55422). |
| Baylor Genetics | RCV000112511 | SCV004216948 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-06-16 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004998174 | SCV005626135 | pathogenic | not provided | 2024-11-18 | criteria provided, single submitter | clinical testing | The BRCA1 c.5150del (p.Phe1717Serfs*3) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in an individual with breast and/or ovarian cancer (PMID: 32438681 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. |
| Breast Cancer Information Core |
RCV000112511 | SCV000145333 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |