Is MAP2K1 p.Asp43del (c.126TGA[1]) pathogenic?

MAP2K1 p.Asp43del (c.126TGA[1]) is classified Uncertain significance in MAP2K1 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-06-08). Absent from gnomAD; Associated with RASopathy.

What condition is associated with MAP2K1 p.Asp43del (c.126TGA[1])?

MAP2K1 p.Asp43del (c.126TGA[1]) is associated with RASopathy (ClinVar).

How common is MAP2K1 p.Asp43del (c.126TGA[1]) in the general population?

MAP2K1 p.Asp43del (c.126TGA[1]) is absent from gnomAD (gnomAD).

MAP2K1 p.Asp43del

c.126TGA[1] · rs1555416037 · VCV477666

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

RASopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.9, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: MAP2K1
Protein: p.Asp43del
Coding: c.126TGA[1]
MANE Select: NM_002755
dbSNP: rs1555416037
Type: Microsatellite
Location: chr15:66435072 (GRCh38)
Gene constraint: LOEUF 0.515 · pLI 0.97 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 84.05 · 99 PDB
Residue 43: an α-helix

Full MAP2K1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

RASopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MAP2K1 c.1068+12_1068+15del Benign ★★★ same condition
MAP2K1 c.694-12TC[4] Benign ★★★ same condition
MAP2K1 c.568+6_568+8del Uncertain significance ★ same condition
MAP2K1 p.Pro266del Uncertain significance ★ same condition
MAP2K1 c.438+16_438+17del Likely benign ★ same condition
MAP2K1 c.694-13_694-10del Likely benign ★ same condition
MAP2K1 c.961-8_961-7del Likely benign ★ same condition
MAP2K1 p.Arg108Leu Likely pathogenic ★★★ same condition

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/map2k1-p-asp43del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown