Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661218 | SCV000783478 | 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 | RCV000219226 | SCV000275088 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-09 | criteria provided, single submitter | clinical testing | The c.2717delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2717, causing a translational frameshift with a predicted alternate stop codon (p.K906Rfs*94). This mutation has been identified in a cohort of Chinese breast cancer patients (Li JY et al. Int. J. Cancer. 2019 01;144(2):281-289). 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 | RCV001230419 | SCV001402897 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-03-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys906Argfs*94) 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 a personal and/or family history of breast and/or ovarian cancer (PMID: 29752822). ClinVar contains an entry for this variant (Variation ID: 231289). For these reasons, this variant has been classified as Pathogenic. |