Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031632 | SCV000282429 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031632 | SCV000327456 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759643 | SCV000889102 | pathogenic | not provided | 2023-01-19 | criteria provided, single submitter | clinical testing | This frameshift variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. The frequency of this variant in the general population, 0.0000041 (1/243430 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with ovarian cancer (PMID: 34657373 (2022)), bladder cancer (PMID: 29909963 (2018)), and colorectal cancer (PMID: 27356891 (2016)). It has also been reported in world-wide screen of BRCA1/BRCA2 mutation carriers (PMID: 29446198 (2018)). Based on the available information, this variant is classified as pathogenic. |
Academic Department of Medical Genetics, |
RCV000850059 | SCV000992215 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity. |
Ambry Genetics | RCV000850059 | SCV001187558 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.6535_6536insA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from an insertion of one nucleotide at position 6535, causing a translational frameshift with a predicted alternate stop codon (p.V2179Dfs*10). This variant has been identified multiple breast/ovarian cancer families (Palma MD et al. Cancer Res, 2008 Sep;68:7006-14; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). 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. |
Invitae | RCV000496438 | SCV001578509 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2179Aspfs*10) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80359601, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer and colorectal cancer (PMID: 18703817, 27356891, 29371908, 29446198). This variant is also known as 6763insA. ClinVar contains an entry for this variant (Variation ID: 38050). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003460522 | SCV004216091 | pathogenic | Familial cancer of breast | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031632 | SCV000054239 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2009-04-15 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031632 | SCV000146880 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496438 | SCV000587856 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |