Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000169282 | SCV000299420 | 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. |
Counsyl | RCV000169282 | SCV000220589 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-08-12 | criteria provided, single submitter | literature only | |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000169282 | SCV000325151 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566720 | SCV000661049 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-06-18 | criteria provided, single submitter | clinical testing | The c.182_183delGT pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of two nucleotides between positions 182 and 183, causing a translational frameshift with a predicted alternate stop codon. This mutation has been identified in one Italian high-risk breast cancer family (Papi L et al, Breast Cancer Res. Treat. 2009 Oct; 117(3):497-504). In addition to the clinical data presented in the literature, 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. |
Invitae | RCV003529955 | SCV004296857 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with hereditary breast or ovarian cancer (PMID: 18821011). This sequence change creates a premature translational stop signal (p.Cys61Serfs*4) 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 variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 54365). For these reasons, this variant has been classified as Pathogenic. |