Is MAP2K2 p.Lys52del (c.151AAG[1]) pathogenic?

MAP2K2 p.Lys52del (c.151AAG[1]) is classified Uncertain significance in MAP2K2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-12). No gnomAD frequency available for this variant; Associated with RASopathy.

What condition is associated with MAP2K2 p.Lys52del (c.151AAG[1])?

MAP2K2 p.Lys52del (c.151AAG[1]) is associated with RASopathy (ClinVar).

How common is MAP2K2 p.Lys52del (c.151AAG[1]) in the general population?

MAP2K2 p.Lys52del (c.151AAG[1]) is no gnomAD frequency available for this variant (gnomAD).

MAP2K2 p.Lys52del

c.151AAG[1] · rs2512323020 · VCV1968422

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 8.5	GERP 0.5, 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: MAP2K2
Protein: p.Lys52del
Coding: c.151AAG[1]
MANE Select: NM_030662
dbSNP: rs2512323020
Type: Microsatellite
Location: chr19:4117566 (GRCh38)
Gene constraint: LOEUF 0.858 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.54 · 3 PDB

Full MAP2K2 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

MAP2K2 p.Lys52Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
MAP2K2 p.Ile325fs Uncertain significance ★★ same condition
MAP2K2 p.Ile97del Uncertain significance ★★ same condition
MAP2K2 c.985-7_985-5del Likely benign ★★ same condition
MAP2K2 p.Glu288del Conflicting classifications of pathogenicity ★ same condition
MAP2K2 c.451-20_451-17del Likely benign ★ same condition
MAP2K2 c.920-17TC[3] Likely benign ★ same condition
MAP2K2 p.Glu207Lys 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/map2k2-p-lys52del (accessed [today's date]).

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