Is MAX p.Ser117Cys (c.350C>G) pathogenic?

MAX p.Ser117Cys (c.350C>G) is classified Uncertain significance in MAX (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-11). AlphaMissense: likely benign (0.0877); Absent from gnomAD v4.1.

How common is MAX p.Ser117Cys (c.350C>G) in the general population?

MAX p.Ser117Cys (c.350C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about MAX p.Ser117Cys (c.350C>G)?

AlphaMissense predicts likely benign (score 0.0877) — an in-silico prediction, not a clinical call.

MAX p.Ser117Cys

c.350C>G · VCV3367434

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0877 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0877	likely benign
REVEL	0.651	pathogenic-leaning
SaProt	LLR -10.46	damaging
⇒ REVEL and SaProt call this damaging; AlphaMissense does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1
Regional constraint	o/e 0.64	unconstrained · MANE · 17 kb · p 1.3e-05 · regional, not allelic
Overall
CADD	23.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

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: MAX
Protein: p.Ser117Cys
Coding: c.350C>G
MANE Select: NM_002382
Type: single nucleotide variant
Location: chr14:65076609 (GRCh38)
Gene constraint: LOEUF 0.288 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 82.07 · 12 PDB
Residue 117: 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

Similar variants

MAX p.Ser117Ala Uncertain significance ★★ ⚠ same residue
MAX p.Ser117Phe Uncertain significance ★ ⚠ same residue
MAX p.Ser117= Likely benign ★ same residue
MAX p.Ser117fs Likely pathogenic ★ same residue
MAX c.295+1G>A Pathogenic ★★ same type
MAX c.295+1G>T Pathogenic ★★ same type
MAX p.Ala67Asp Pathogenic/Likely pathogenic ★★ same type
MAX p.Arg33Ter Pathogenic ★★ same type

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-ser117cys (accessed [today's date]).

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