SPECC1L-ADORA2A
Chr 22SPECC1L-ADORA2A readthrough (NMD candidate)
This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
509 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 7 | 8 | 0 | 15 |
Likely Pathogenic | 0 | 6 | 3 | 0 | 9 |
VUS | 10 | 246 | 49 | 1 | 306 |
Likely Benign | 0 | 36 | 23 | 55 | 114 |
Benign | 0 | 12 | 17 | 14 | 43 |
Conflicting | — | 22 | |||
| Total | 10 | 307 | 100 | 70 | 509 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SPECC1L-ADORA2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
No open access results found
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools