Is INF2 p.Ala934= (c.2802G>A) pathogenic?

INF2 p.Ala934= (c.2802G>A) is classified Likely benign in INF2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-07-02). Ultra-rare (popmax 0.0533%, eas); Associated with Charcot-Marie-Tooth disease dominant intermediate E.

How common is INF2 p.Ala934= (c.2802G>A) in the general population?

INF2 p.Ala934= (c.2802G>A) is ultra-rare (popmax 0.0533%, eas) (gnomAD).

INF2 p.Ala934=

Q: What condition is associated with INF2 p.Ala934= (c.2802G>A)?

INF2 p.Ala934= (c.2802G>A) is associated with Charcot-Marie-Tooth disease dominant intermediate E, focal segmental glomerulosclerosis 5 (ClinVar).

Q: How is Autosomal dominant intermediate Charcot-Marie-Tooth disease type E inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

c.2802G>A · rs768008674 · VCV704370

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0533%, eas)

Conditions

Charcot-Marie-Tooth disease dominant intermediate E

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
Conservation	phyloP -4.8	GERP -6.9
Overall
CADD	5.14	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0533% East Asian · 22/41,244 alleles

Filtering AF 0.0361% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0304%

Overall 0.00225% 35/1,553,364 alleles · ultra-rare exomes 32/1,401,118 · genomes 3/152,246 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0533%	1,875
Middle Eastern	0.0211%	4,736
South Asian	0.00472%	21,198
African / African-American	0.0041%	24,395
Remaining individualsnot grpmax-eligible	0.00332%	30,077
European (non-Finnish)	0.000261%	383,086

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: INF2
Protein: p.Ala934=
Coding: c.2802G>A
MANE Select: NM_022489
dbSNP: rs768008674
Type: single nucleotide variant
Location: chr14:104713233 (GRCh38)
Gene constraint: LOEUF 0.526 · pLI 0.33 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 67.34 · 10 PDB
Residue 934: an α-helix; the fh2 domain; the 'disordered' region

Full INF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Charcot-Marie-Tooth disease dominant intermediate E — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: focal segmental glomerulosclerosis 5

For Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: No data available

Similar variants

INF2 p.Ala934Val Conflicting classifications of pathogenicity ★ ⚠ same residue
INF2 p.Arg177Cys Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Arg214Cys Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Arg214His Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Arg218Gln Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Arg218Trp Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Arg91Gly Pathogenic/Likely pathogenic ★★ same condition
INF2 p.Asn202Asp 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/inf2-p-ala934 (accessed [today's date]).

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