Is KRAS p.Gln61Arg (c.182_183delinsGT) pathogenic?

KRAS p.Gln61Arg (c.182183delinsGT) is classified Pathogenic in KRAS (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-26). Associated with vascular malformation.

What condition is associated with KRAS p.Gln61Arg (c.182_183delinsGT)?

KRAS p.Gln61Arg (c.182_183delinsGT) is associated with vascular malformation (ClinVar).

KRAS p.Gln61Arg

c.182_183delinsGT · VCV4279990

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

vascular malformation

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
Regional constraint	o/e 0.30	constrained · MANE · 20 kb · p 1.6e-16 · regional, not allelic

Variant & gene context

Gene: KRAS
Protein: p.Gln61Arg
Coding: c.182_183delinsGT
MANE Select: NM_004985
Type: Indel
Location: chr12:25227341 (GRCh38)
Gene constraint: LOEUF 0.264 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.65 · 549 PDB
Residue 61: a UniProt-annotated variant site (in lung carcinoma); a UniProt-annotated variant site (in a colorectal cancer sample; somatic mutation; promotes interaction with shoc2 and pp1c); an α-helix

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

Disease context

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

Similar variants

KRAS p.Gln61Leu Pathogenic ★ same residue
KRAS p.Gln61Lys Pathogenic ★ same residue
KRAS p.Glu63_Tyr64delinsAspGlnTyrMetArgAsp Likely pathogenic ★ same condition
KRAS p.Gln61His Conflicting classifications of pathogenicity ★ ⚠ same residue
KRAS p.Gln61Pro Uncertain significance ★ ⚠ same residue
KRAS p.Gln22Lys Pathogenic/Likely pathogenic ★★ same condition
KRAS p.Gly12Ser Pathogenic ★★ same condition
KRAS p.Ala66_Met67insGlyGlnGluGluTyrSerAla 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/kras-p-gln61arg (accessed [today's date]).

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