Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077148 | SCV000300130 | 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 |
RCV000077148 | SCV000325988 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000257896 | SCV000758989 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-05-12 | 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 been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91631). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1498Leufs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758832 | SCV000887699 | pathogenic | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001191623 | SCV001359512 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 14 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000077148 | SCV000108945 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-03-22 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353408 | SCV000591523 | pathogenic | Malignant tumor of breast | no assertion criteria provided | clinical testing | The p.Pro1498LeufsX7 variant has not been identified in the literature or in the public databases. The p.Pro1498LeufsX7 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1498, leading to a premature stop codon 7 amino acids downstream, thus overall resulting in a truncated or absent BRCA1 protein. Loss of function of the BRCA1 gene is an established disease mechanism in familial breast and ovarian cancer patients, In summary, based on the above information, this variant is classified as pathogenic |