Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000779879 | SCV000916758 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000932347 | SCV001078029 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000678991 | SCV002752983 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-03 | 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. |
| True Health Diagnostics | RCV000678991 | SCV000805230 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-09 | no assertion criteria provided | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001356622 | SCV001551842 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA1 p.Ser1021= variant was not identified in the literature nor was it identified in the dbSNP , LOVD 3.0, or UMD-LSDB databases. The variant was identified in ClinVar (classified as likely benign by True Health Diagnostics). The variant was identified in control databases in 1 of 30974 chromosomes at a frequency of 0.00003 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 1 of 15008 chromosomes (freq: 0.00007), while the variant was not observed in the South Asian, African, Other, Latino, Ashkenazi Jewish, East Asian, or Finnish populations. The p.Ser1021= 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) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |