Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000241411 | SCV000300069 | 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. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000241411 | SCV000325842 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000483270 | SCV000568408 | pathogenic | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA1 c.4088C>G at the cDNA level and p.Ser1363Ter (S1363X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in at least two patients undergoing genetic testing for hereditary breast and/or ovarian cancer (Caux-Moncoutier 2009, Michils 2012) and is considered pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000483270 | SCV000887685 | pathogenic | not provided | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021838 | SCV001183505 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-12-08 | criteria provided, single submitter | clinical testing | The p.S1363* pathogenic mutation (also known as c.4088C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4088. This changes the amino acid from a serine 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 | RCV001048872 | SCV001212898 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-02-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1363*) 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 present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 254452). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000483270 | SCV004224861 | pathogenic | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | PP5, PM2, PVS1 |
Center for Genomic Medicine, |
RCV000483270 | SCV004242815 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing |