Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000239028 | SCV000783601 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Invitae | RCV001225144 | SCV001397383 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-04-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 252873). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1086*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002321920 | SCV002611100 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-10-30 | criteria provided, single submitter | clinical testing | The c.3257delT pathogenic mutation, also known as p.Leu1086*, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3257, causing a predicted alternate stop codon. 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 |
RCV000239028 | SCV000297476 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-05-29 | no assertion criteria provided | clinical testing |