Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000144189 | SCV000300973 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV000222461 | SCV000274024 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-02-20 | criteria provided, single submitter | clinical testing | The p.L2015* pathogenic mutation (also known as c.6044T>A and 6272T>A) located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 6044. This changes the amino acid from a leucine to a stop codon within coding exon 10. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586567 | SCV005075896 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-04-30 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.6044T>A (p.Leu2015X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 1461452 control chromosomes. To our knowledge, no occurrence of c.6044T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 156172). Based on the evidence outlined above, the variant was classified as pathogenic. |
Sharing Clinical Reports Project |
RCV000144189 | SCV000189262 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2012-08-03 | no assertion criteria provided | clinical testing | |
CZECANCA consortium | RCV001271043 | SCV001451862 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |