Is MET p.Gln808= (c.2424G>A) pathogenic?

MET p.Gln808= (c.2424G>A) is classified Benign/Likely benign in MET (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-08-12). Absent from gnomAD v4.1; Associated with renal cell carcinoma.

What condition is associated with MET p.Gln808= (c.2424G>A)?

MET p.Gln808= (c.2424G>A) is associated with renal cell carcinoma, hereditary neoplastic syndrome (ClinVar).

How common is MET p.Gln808= (c.2424G>A) in the general population?

MET p.Gln808= (c.2424G>A) is absent from gnomAD v4.1 (gnomAD).

MET p.Gln808=

c.2424G>A · rs2116954783 · VCV1791865

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

renal cell carcinoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.23	acceptor loss, 1 bp away · masked 0 · deltas
Constraint at this position
Conservation	phyloP 5.9	GERP 1.7, phastCons 1
Overall
CADD	6.972	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MET
Protein: p.Gln808=
Coding: c.2424G>A
MANE Select: NM_024755 · reported on NM_000245
dbSNP: rs2116954783
Type: single nucleotide variant
Location: chr7:116763109 (GRCh38)
Structure: AlphaFold pLDDT 52.38
Residue 808: the 'disordered' region

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

Disease context

renal cell carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary neoplastic syndrome

Similar variants

MET p.His1094Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
MET p.Met1131Thr Pathogenic/Likely pathogenic ★★ same condition
MET p.Val1092Ile Pathogenic/Likely pathogenic ★★ same condition
MET p.Val1220Ile Pathogenic/Likely pathogenic ★★ ⚠ same condition
MET c.1200+2T>C Uncertain significance ★★ same condition
MET c.1392+1G>T Uncertain significance ★★ same condition
MET c.1392+3A>G Uncertain significance ★★ same condition
MET c.1392+5G>C Uncertain significance ★★ 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/met-p-gln808 (accessed [today's date]).

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