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MET p.His150=

c.450T>C · rs2116589122 · VCV1096796

Likely benign Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Conditions
2
renal cell carcinoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI—not assessed · no allele here is in the release
Constraint at this position
ConservationphyloP -3GERP -3.7
Overall
CADD0.257PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 8.47e-05% European (non-Finnish) · 1/1,179,942 alleles
Overall 6.84e-05% 1/1,461,768 alleles · very rare

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene
MET
Protein
p.His150=
Coding
c.450T>C
MANE Select
NM_000245
dbSNP
rs2116589122
Type
single nucleotide variant
Location
chr7:116699534 (GRCh38)
Gene constraint
LOEUF 0.446 · pLI 1.00 (gnomAD)
Structure
AlphaFold pLDDT 79.28 · 130 PDB
Residue 150
a disulfide bond; the sema domain; a UniProt-annotated variant site (found in a case of cancer of unknown primary origin; uncertain significance; somatic mutation)
Full MET gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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-his150 (accessed [today's date]).

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