Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241297 | SCV000299951 | 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 | RCV000166742 | SCV000217553 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-12 | criteria provided, single submitter | clinical testing | The p.E1161* pathogenic mutation (also known as c.3481G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3481. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. 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 | RCV000461437 | SCV000549284 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1161*) 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 variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 187055). For these reasons, this variant has been classified as Pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759524 | SCV000888894 | pathogenic | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | This nonsense variant causes the premature termination of BRCA1 protein synthesis. The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. |