Is MAX p.Gly137= (c.411C>T) pathogenic?

MAX p.Gly137= (c.411C>T) is classified Likely benign in MAX (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-23). No allele count reported in gnomAD v4.1 (AN 1,613,950); Associated with hereditary neoplastic syndrome.

What condition is associated with MAX p.Gly137= (c.411C>T)?

MAX p.Gly137= (c.411C>T) is associated with hereditary neoplastic syndrome, hereditary pheochromocytoma-paraganglioma (ClinVar).

How common is MAX p.Gly137= (c.411C>T) in the general population?

MAX p.Gly137= (c.411C>T) is no allele count reported in gnomAD v4.1 (AN 1,613,950) (gnomAD).

MAX p.Gly137=

c.411C>T · VCV3543695

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,613,950)

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.076	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.1	GERP 0.035, phastCons 1
Overall
CADD	6.441	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,613,950). 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: MAX
Protein: p.Gly137=
Coding: c.411C>T
MANE Select: NM_002382
Type: single nucleotide variant
Location: chr14:65076548 (GRCh38)
Gene constraint: LOEUF 0.288 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 82.07 · 12 PDB
Residue 137: a UniProt-annotated variant site (in pcc; does not repress myc transcriptional activity); a UniProt-annotated variant site (in pcc; uncertain significance); the 'disordered' region

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

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary pheochromocytoma-paraganglioma

Similar variants

MAX p.Gly137Asp Uncertain significance ★★ ⚠ same residue
MAX p.Gly137Arg Uncertain significance ★ ⚠ same residue
MAX p.Gly137Ser Uncertain significance ★ ⚠ same residue
MAX p.Gly137Val Uncertain significance ★ ⚠ same residue
MAX p.Gly137fs Uncertain significance ★ same residue
MAX c.295+1G>A Pathogenic ★★ same condition
MAX c.295+1G>T Pathogenic ★★ same condition
MAX p.Ala67Asp Pathogenic/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/max-p-gly137 (accessed [today's date]).

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