Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000257306 | SCV000323765 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000257306 | SCV000325950 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000496449 | SCV001585362 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and uterine cancer (PMID: 19656415, 21702907). ClinVar contains an entry for this variant (Variation ID: 55191). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1467*) 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). |
Color Diagnostics, |
RCV001525143 | SCV001735185 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-11 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 13 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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. |
Ambry Genetics | RCV001525143 | SCV005025853 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-18 | criteria provided, single submitter | clinical testing | The p.Q1467* pathogenic mutation (also known as c.4399C>T), located in coding exon 12 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4399. This changes the amino acid from a glutamine to a stop codon within coding exon 12. This alteration was identified amongst 91 families in India with early onset breast and/or early onset ovarian cancer (Soumittra N et al. Hered Cancer Clin Pract, 2009 Aug;7:13). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
Research Molecular Genetics Laboratory, |
RCV000496449 | SCV000587395 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research | |
Foulkes Cancer Genetics LDI, |
RCV000735468 | SCV000863605 | pathogenic | Breast and/or ovarian cancer | 2010-07-07 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358297 | SCV001553991 | uncertain significance | not provided | no assertion criteria provided | clinical testing |