Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000163587 | SCV000214147 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Invitae | RCV000463525 | SCV000554151 | likely benign | Peutz-Jeghers syndrome | 2023-11-23 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000163587 | SCV000910037 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-20 | criteria provided, single submitter | clinical testing | |
| Center for Genomic Medicine, |
RCV002267905 | SCV002552003 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001356112 | SCV001551185 | uncertain significance | Malignant tumor of breast | no assertion criteria provided | clinical testing | The STK11 p.His154= variant was not identified in the literature nor was it identified in the LOVD 3.0, database. The variant was identified in dbSNP (ID: rs786201418) as "With Likely benign allele", ClinVar (classified as likely benign by Ambry Genetics and Invitae).The variant was identified in control databases in 2 of 191394 chromosomes at a frequency of 0.00001 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 1 of 28254 chromosomes (freq: 0.000035), East Asian in 1 of 13542 chromosomes (freq: 0.00007), while the variant was not observed in the African, Other, European Non-Finnish, Ashkenazi Jewish, European Finnish, and South Asian populations. The p.His154= variant is not expected to have clinical significance because it does not result in a change of amino acid. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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. This variant is classified as a variant of uncertain significance. |