Is MAX p.Asp41= (c.123C>T) pathogenic?

MAX p.Asp41= (c.123C>T) is classified Likely benign in MAX (ClinVar, Single submitter, 1 submitter; last evaluated 2016-06-04). Very rare (popmax 8.48e-05%, nfe); Associated with hereditary neoplastic syndrome.

What condition is associated with MAX p.Asp41= (c.123C>T)?

MAX p.Asp41= (c.123C>T) is associated with hereditary neoplastic syndrome (ClinVar).

How common is MAX p.Asp41= (c.123C>T) in the general population?

MAX p.Asp41= (c.123C>T) is very rare (popmax 8.48e-05%, nfe) (gnomAD).

MAX p.Asp41=

c.123C>T · rs1555343162 · VCV485705

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.48e-05%, nfe)

Conditions

hereditary neoplastic syndrome

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 6.6	GERP 0.024, phastCons 1
Overall
CADD	13.44	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.48e-05% European (non-Finnish) · 1/1,178,682 alleles

Overall 6.2e-05% 1/1,612,716 alleles · very rare exomes 1/1,460,386 · genomes 0/152,330 · joint denominator

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: MAX
Protein: p.Asp41=
Coding: c.123C>T
MANE Select: NM_002382
dbSNP: rs1555343162
Type: single nucleotide variant
Location: chr14:65093756 (GRCh38)

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

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-asp41 (accessed [today's date]).

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