Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112000 | SCV000299882 | 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 | RCV001018674 | SCV001179939 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-12-16 | criteria provided, single submitter | clinical testing | The c.3108delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3108, causing a translational frameshift with a predicted alternate stop codon (p.F1036Lfs*12). This alteration has been identified in individuals diagnosed with breast and/or ovarian cancer and in an individual diagnosed with breast and thyroid cancer (Pal T et al. Fam. Cancer, 2001;1:17-24; Donenberg T et al. Breast Cancer Res. Treat., 2016 08;159:131-8; Li A et al. Gynecol. Oncol., 2018 10;151:145-152). Of note, this alteration is also designated as 3227delT in published literature. 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 | RCV001388996 | SCV001590195 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-07-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe1036Leufs*12) 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 and ovarian cancer (PMID: 14574011, 27469594, 30078507). This variant is also known as 3227delT. ClinVar contains an entry for this variant (Variation ID: 54771). For these reasons, this variant has been classified as Pathogenic. |
National Health Laboratory Service, |
RCV001388996 | SCV002025965 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000112000 | SCV004216997 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112000 | SCV000144637 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |