Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000077090 | SCV000299424 | 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. |
| Ambry Genetics | RCV000132360 | SCV000187449 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-03 | criteria provided, single submitter | clinical testing | The c.203_204delTA pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 203 to 204, causing a translational frameshift with a predicted alternate stop codon (p.I68Nfs*12). 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. |
| Gene |
RCV000159896 | SCV000209999 | pathogenic | not provided | 2014-03-11 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted BRCA1 c.203_204delTA at the cDNA level and p.Ile68AsnfsX12 (I68NfsX12) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GATA[delTA]ACCA. The deletion causes a frameshift, which changes an Isoleucine to an Asparagine at codon 68, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is considered pathogenic. |
| Labcorp Genetics |
RCV001065885 | SCV001230873 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-09-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91573). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile68Asnfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
| Baylor Genetics | RCV000077090 | SCV004216847 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-01-26 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000077090 | SCV000108887 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-08-24 | no assertion criteria provided | clinical testing |