Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661150 | SCV000783402 | 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. |
Ambry Genetics | RCV000509916 | SCV000607953 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-16 | criteria provided, single submitter | clinical testing | The c.2193_2196delAGAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 2193 to 2196, causing a translational frameshift with a predicted alternate stop codon (p.E732Rfs*3). This alteration has been reported in a Japanese patient with ovarian cancer at 56 years old (Matsushima M et al. Hum. Mol. Genet., 1995 Oct;4:1953-6). 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. |
Invitae | RCV001229132 | SCV001401569 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-02-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8595420, 18489799). This variant is also known as 2311del4 or 2312del4 in the literature. ClinVar contains an entry for this variant (Variation ID: 54491). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu732Argfs*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). |