Is MAX p.Gln82fs (c.242_243dup) pathogenic?

MAX p.Gln82fs (c.242243dup) is classified Pathogenic in MAX (ClinVar, Single submitter, 1 submitter; last evaluated 2019-05-01). No gnomAD frequency available for this variant; Associated with hereditary pheochromocytoma-paraganglioma.

What condition is associated with MAX p.Gln82fs (c.242_243dup)?

MAX p.Gln82fs (c.242_243dup) is associated with hereditary pheochromocytoma-paraganglioma (ClinVar).

How common is MAX p.Gln82fs (c.242_243dup) in the general population?

MAX p.Gln82fs (c.242_243dup) is no gnomAD frequency available for this variant (gnomAD).

How is Hereditary pheochromocytoma-paraganglioma inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

MAX p.Gln82fs

c.242_243dup · rs2063104408 · VCV842127

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary pheochromocytoma-paraganglioma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 4 of 5
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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.Gln82fs
Coding: c.242_243dup
MANE Select: NM_002382
dbSNP: rs2063104408
Type: Microsatellite
Location: chr14:65077964 (GRCh38)
Gene constraint: LOEUF 0.288 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 82.07 · 12 PDB
Residue 82: a UniProt-annotated variant site (in pcc; does not repress myc transcriptional activity); a UniProt-annotated variant site (in pcc; uncertain significance); the 'leucine-zipper' region; an α-helix

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

Disease context

hereditary pheochromocytoma-paraganglioma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary pheochromocytoma-paraganglioma (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood
Prevalence: 1-9 / 1 000 000 (Worldwide)

Similar variants

MAX p.Gln82Glu Uncertain significance ★★ ⚠ same residue
MAX p.Gln82His Uncertain significance ★ ⚠ same residue
MAX p.Gln82Ter Pathogenic ★ same residue
MAX p.Gln82Arg Uncertain significance ★ ⚠ same residue
MAX c.172-10_172-9del Likely benign ★ same condition
MAX c.296-25AC[2] Likely benign ★ same condition
MAX c.37-12_37-9del Likely benign ★ same condition
MAX c.295+1G>A 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-gln82fs (accessed [today's date]).

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