Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256693 | SCV000323466 | 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 |
RCV000256693 | SCV000325373 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484003 | SCV000564727 | pathogenic | not provided | 2015-06-26 | criteria provided, single submitter | clinical testing | This duplication of 10 nucleotides is denoted BRCA1 c.2488_2497dup10 at the cDNA level and p.Leu833Ter (L833X) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CTTT[AAGTATCCAT]TGGG. The duplication creates a nonsense variant, which changes a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 2488_2497dup10, also reported as 2607_2616dup10 using alternate nomenclature, has been observed in multiple Czech breast and/or ovarian cancer families from the (Foretova 2004, Machackova 2008, Konecky 2011). This variant is considered pathogenic. |
Breast Cancer Information Core |
RCV000256693 | SCV000144459 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2005-09-27 | no assertion criteria provided | clinical testing | |
CZECANCA consortium | RCV001270972 | SCV001451777 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |