Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256599 | SCV000323520 | 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 |
RCV000256599 | SCV000325471 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000506918 | SCV000605757 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-01-11 | criteria provided, single submitter | clinical testing | The p.Asn941fs variant in BRCA1 has not been previously reported in individuals with hereditary breast and ovarian cancer (HBOC) and was absent from large popul ation studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 941 and leads to a prematur e termination codon 59 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in HBOC. In addition, this varian t was classified as Pathogenic on October 2, 2015 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000325471.3). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. |