Is MAP2K2 p.Asp71del (c.210_212del) pathogenic?

MAP2K2 p.Asp71del (c.210212del) is classified Pathogenic in MAP2K2 (ClinVar, Single submitter, 1 submitter; last evaluated 2016-08-15). No gnomAD frequency available for this variant; Associated with Smith-Magenis Syndrome-like.

What condition is associated with MAP2K2 p.Asp71del (c.210_212del)?

MAP2K2 p.Asp71del (c.210_212del) is associated with Smith-Magenis Syndrome-like (ClinVar).

How common is MAP2K2 p.Asp71del (c.210_212del) in the general population?

MAP2K2 p.Asp71del (c.210_212del) is no gnomAD frequency available for this variant (gnomAD).

MAP2K2 p.Asp71del

c.210_212del · rs1114167351 · VCV254207

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Smith-Magenis Syndrome-like

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 5.7	GERP 0.8, 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.Asp71del
Coding: c.210_212del
MANE Select: NM_030662
dbSNP: rs1114167351
Type: Deletion
Location: chr19:4117510 (GRCh38)
Gene constraint: LOEUF 0.858 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.54 · 3 PDB
Residue 71: an α-helix

Full MAP2K2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Smith-Magenis Syndrome-like

Similar variants

MAP2K2 p.Asp71Asn Uncertain significance ★ ⚠ same residue
MAP2K2 p.Asp71fs Uncertain significance ★ same residue
MAP2K2 p.Asp71Gly Uncertain significance ★ ⚠ same residue
MAP2K2 p.Pro128Leu Pathogenic/Likely pathogenic ★★ same condition
MAP2K2 p.Glu118Lys Uncertain significance ★★ ⚠ same condition
MAP2K2 p.Gly214Arg Uncertain significance ★★ ⚠ same condition
MAP2K2 p.Lys348Arg Uncertain significance ★★ ⚠ same condition
MAP2K2 p.Ala62Pro 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-asp71del (accessed [today's date]).

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