Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077113 | SCV000299812 | 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 | RCV000165785 | SCV000216530 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-29 | criteria provided, single submitter | clinical testing | The c.2686dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2686, causing a translational frameshift with a predicted alternate stop codon (p.S896Kfs*7). This mutation, designated as c.2686_2687insA, has been identified in high risk breast cancer families in Trinidad and Tobago and Iran (Donenberg T et al. Breast Cancer Res. Treat., 2016 08;159:131-8; Ebrahimi E et al. Cancer Prev Res (Phila), 2019 Nov;12:763-770). In addition to the published data, 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 |
RCV000077113 | SCV000325432 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000077113 | SCV000746299 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001854352 | SCV002177435 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser896Lysfs*7) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 27469594). This variant is also known as c.2686_2687insA. ClinVar contains an entry for this variant (Variation ID: 91596). For these reasons, this variant has been classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000077113 | SCV000108910 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-12-06 | no assertion criteria provided | clinical testing |