Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031076 | SCV000299865 | 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 |
RCV000031076 | SCV000325514 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV000031076 | SCV000564356 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573157 | SCV000665048 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-08-15 | criteria provided, single submitter | clinical testing | The c.2981_2982delGT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2981 to 2982, causing a translational frameshift with a predicted alternate stop codon (p.C994*). 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. |
Color Diagnostics, |
RCV000573157 | SCV001736650 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-07 | criteria provided, single submitter | clinical testing | This variant deletes 2 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000031076 | SCV000053672 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-03-30 | no assertion criteria provided | clinical testing |