MAPK8 c.252+126AT[13]
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 6.41%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +126 | deep intronic (+126 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.49 | GERP -2.3 |
| Non-coding constraint | Z -0.99 | 1 kb window · o/e 1.08 · regional · uncalibrated |
| Overall | ||
| CADD | 1.862 | PHRED · no single calibrated threshold — expert panels disagree |
| Region caveats | ||
| Repeat context | tandem | (AT)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.41%
African / African-American · 2,726/42,504 alleles
Filtering AF
6.21%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.13%
Overall
4.13%
9,667/234,050 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.41% | 16 |
| Ashkenazi Jewishnot grpmax-eligible | 5.18% | 19 |
| East Asian | 4.28% | 23 |
| Middle Eastern | 4.26% | 23 |
| European (non-Finnish) | 3.7% | 27 |
| Admixed American | 3.58% | 28 |
| Remaining individualsnot grpmax-eligible | 3.44% | 29 |
| South Asian | 3.22% | 31 |
| Finnishnot grpmax-eligible | 2.53% | 40 |
| Amishnot grpmax-eligible | 0.351% | 285 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MAPK8
- Coding
- c.252+126AT[13]
- MANE Select
- NM_001323329
- dbSNP
- rs10657070
- Type
- Microsatellite
- Location
- chr10:48405106 (GRCh38)
- Gene constraint
- LOEUF 0.532 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 83.75 · 41 PDB
Similar variants
- MAPK8 c.252+126AT[10] Benign ★ same type
- MAPK8 c.252+126AT[12] Benign ★ same type
- MAPK8 c.252+126AT[14] Benign ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mapk8-c-252-plus-126at-13 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown