Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661272 | SCV000783537 | 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. |
Gene |
RCV000486809 | SCV000568386 | pathogenic | not provided | 2020-05-12 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 4906C>A; This variant is associated with the following publications: (PMID: 30322717, 25556971, 30199306) |
Ambry Genetics | RCV000509938 | SCV000607856 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-06 | criteria provided, single submitter | clinical testing | The p.S1596* pathogenic mutation (also known as c.4787C>A), located in coding exon 14 of the BRCA1 gene, results from a C to A substitution at nucleotide position 4787. This changes the amino acid from a serine to a stop codon within coding exon 14. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 | RCV001045842 | SCV001209716 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-12-29 | 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: 420037). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 25556971). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1596*) 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). |