Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077485 | SCV000299408 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000077485 | SCV000325008 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000485954 | SCV000566442 | pathogenic | not provided | 2015-05-05 | criteria provided, single submitter | clinical testing | This deletion of one nucleotide in BRCA1 is denoted c.130delT at the cDNA level and p.Cys44AlafsX6 (C44AfsX6) at the protein level. The normal sequence, with the base that is deleted in braces, is ATTT[T]GCAA. The deletion causes a frameshift, which changes a Cysteine to an Alanine at codon 44, and creates a premature stop codon at position 6 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic. |
Labcorp Genetics |
RCV000496885 | SCV001584921 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys44Alafs*6) 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). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54194). |
Baylor Genetics | RCV000077485 | SCV004215012 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000077485 | SCV000109283 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-03-28 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077485 | SCV000144398 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-06-21 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496885 | SCV000587016 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |