Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241207 | SCV000299690 | 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 | RCV000132180 | SCV000187259 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-12-09 | criteria provided, single submitter | clinical testing | The p.E686* pathogenic mutation (also known as c.2056G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2056. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV001069876 | SCV001235073 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu686*) 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 clinical features of BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 142776). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001781477 | SCV002020167 | pathogenic | not provided | 2020-10-21 | criteria provided, single submitter | clinical testing |