Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077066 | SCV000299587 | 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 | RCV002381394 | SCV002698282 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-28 | criteria provided, single submitter | clinical testing | The c.1361delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1361, causing a translational frameshift with a predicted alternate stop codon (p.S454Ifs*21). This mutation has been reported in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Lin PH et al. Oncotarget, 2016 Feb;7:8310-20; Bhaskaran SP et al. Int J Cancer, 2019 08;145:962-973; Chao A et al. J Gynecol Oncol, 2020 May;31:e24). 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 |
RCV000077066 | SCV000108863 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-12-02 | no assertion criteria provided | clinical testing |