Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111946 | SCV000299841 | 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 | RCV001016723 | SCV001177711 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-10 | criteria provided, single submitter | clinical testing | The p.C944* pathogenic mutation (also known as c.2832T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 2832. This changes the amino acid from a cysteine to a stop codon within coding exon 9. This alteration has been identified in patients diagnosed with breast and/or ovarian cancer (Pal T et al. Cancer. 2005 Dec;104:2807-16; Singh J et al. Breast Cancer Res. Treat. 2018 Jul;170:189-196). 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 | RCV001386301 | SCV001586485 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-04-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54691). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16284991, 29470806). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys944*) 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). |
Baylor Genetics | RCV000111946 | SCV004215041 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000111946 | SCV000144556 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-06-20 | no assertion criteria provided | clinical testing |