Is CHMP7 p.Asp310Glu (c.930C>G) pathogenic?

CHMP7 p.Asp310Glu (c.930C>G) is classified Uncertain significance in CHMP7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-05-20). AlphaMissense: likely pathogenic (0.5798); Absent from gnomAD v4.1.

How common is CHMP7 p.Asp310Glu (c.930C>G) in the general population?

CHMP7 p.Asp310Glu (c.930C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CHMP7 p.Asp310Glu (c.930C>G)?

AlphaMissense predicts likely pathogenic (score 0.5798) — an in-silico prediction, not a clinical call.

CHMP7 p.Asp310Glu

c.930C>G · VCV4002463

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.5798 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.5798	likely pathogenic
REVEL	0.338	indeterminate
SaProt	LLR -6.12	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1	GERP -0.36, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 14 kb · p 0.075 · regional, not allelic
Overall
CADD	18.15	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: CHMP7
Protein: p.Asp310Glu
Coding: c.930C>G
MANE Select: NM_152272
Type: single nucleotide variant
Location: chr8:23258419 (GRCh38)
Gene constraint: LOEUF 0.496 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 76.53

Full CHMP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CHMP7 p.Ala297= Benign ★★ same type
CHMP7 p.Leu347= Benign ★★ same type
CHMP7 p.Ala112Asp Uncertain significance ★ ⚠ same type
CHMP7 p.Ala12Gly Uncertain significance ★ ⚠ same type
CHMP7 p.Ala146Thr Uncertain significance ★ ⚠ same type
CHMP7 p.Ala160Gly Uncertain significance ★ ⚠ same type
CHMP7 p.Ala17Thr Uncertain significance ★ ⚠ same type
CHMP7 p.Ala188Val Uncertain significance ★ ⚠ 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/chmp7-p-asp310glu (accessed [today's date]).

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