Variant
CTLA4 P136A
NM_005214.5(CTLA4):c.406C>G (p.Pro136Ala)
- p.Pro136Ala
- p.P136A
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 24 November 2025
- Expert panel
- ClinGen Primary Immune Regulatory Disorders Variant Curation Expert Panel, ClinGen
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
P136A is a missense variant in CTLA4: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for CTLA4 haploinsufficiency (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| CTLA4 haploinsufficiencyClinVar VCV004683130 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 24 November 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Molecular details
| Gene | CTLA4 |
|---|---|
| Transcript | NM_005214.5MANE Select |
| Coding DNA change (HGVS c.) | c.406C>G |
| Protein change (HGVS p.) | p.Pro136Alap.P136A |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr2:203870882 C>G |
| Position (GRCh37) | chr2:204735605 C>G |
| ClinVar Variation ID | VCV004683130 (opens in a new tab) |
| ClinVar Allele ID | 4794570 |
| ClinVar name | NM_005214.5(CTLA4):c.406C>G (p.Pro136Ala) |
CTLA4 P136A in other databases
Reports that look at this variant (4)
These Genome Test condition reports include P136A among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Autoimmune Disease | Autoimmune Disease | |
| Autoimmune Lymphoproliferative Syndrome (ALPS) | Autoimmune lymphoproliferative syndrome | |
| Other Inborn Errors of Immunity | Inborn error of immunity | |
| IPEX Syndrome and Other Tregopathies | CTLA4 haploinsufficiency | Autosomal dominant |
Other variants in CTLA4
- A121Pfs*23Pathogenic3 stars out of 4
- C35XPathogenic3 stars out of 4
- D153NPathogenic3 stars out of 4
- L24Pfs*35Pathogenic3 stars out of 4
- L28Ffs*44Pathogenic3 stars out of 4
- L28Sfs*32Pathogenic3 stars out of 4
- P32Ffs*29Pathogenic3 stars out of 4
- P136LLikely pathogenic3 stars out of 4
- P136SLikely pathogenic3 stars out of 4
- P137LLikely pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). CTLA4 P136A (c.406C>G) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/ctla4/variants/p136a
Dante Labs. CTLA4 P136A (c.406C>G) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ctla4/variants/p136a
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