Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495772 | SCV000578380 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Invitae | RCV000227267 | SCV000289807 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-03-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525773 | SCV001735958 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001525773 | SCV002638105 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Department of Pathology and Laboratory Medicine, |
RCV001358549 | SCV001554316 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA1 p.Arg1555= variant was not identified in the literature nor was it identified in the dbSNP, Genesight-COGR, Cosmic, MutDB, LOVD 3.0, BIC Database, ARUP Laboratories, Zhejiang Colon Cancer Database, databases. The variant was identified in ClinVar and in Clinvitae databases as Likely Benign by Invitae. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Arg1555= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign. |