Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000239171 | SCV000783481 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV001381518 | SCV001579953 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-10-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 252868). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25428789). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile587Alafs*4) 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). |
Ambry Genetics | RCV002401948 | SCV002714350 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-27 | criteria provided, single submitter | clinical testing | The c.1759_1762delATAA pathogenic mutation (also known as p.I587Afs*4) is located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1759 to 1762, causing a translational frameshift with a predicted alternate stop codon. This mutation (designated 1759delATAA) has been identified in an African American woman diagnosed with early-onset breast cancer (Churpek JE et al. Breast Cancer Res. Treat., 2015 Jan;149:31-9). 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. |
Sharing Clinical Reports Project |
RCV000239171 | SCV000297471 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2009-11-13 | no assertion criteria provided | clinical testing |