Is ADAM29 p.Val772Met (c.2314G>A) pathogenic?

ADAM29 p.Val772Met (c.2314G>A) is classified Uncertain significance in ADAM29 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-08). AlphaMissense: likely benign (0.1068); Absent from gnomAD v4.1.

How common is ADAM29 p.Val772Met (c.2314G>A) in the general population?

ADAM29 p.Val772Met (c.2314G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ADAM29 p.Val772Met (c.2314G>A)?

AlphaMissense predicts likely benign (score 0.1068) — an in-silico prediction, not a clinical call.

ADAM29 p.Val772Met

c.2314G>A · VCV4637406

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1068 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1068	likely benign
REVEL	0.03	moderately benign-leaning
SaProt	LLR -10.49	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Regional constraint	o/e 0.97	unconstrained · MANE · 2,459 bp · p 0.3 · regional, not allelic
Overall
CADD	0.475	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: ADAM29
Protein: p.Val772Met
Coding: c.2314G>A
MANE Select: NM_014269
Type: single nucleotide variant
Location: chr4:174977839 (GRCh38)
Gene constraint: LOEUF 1.939 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.07
Residue 772: the 'disordered' region; the '9 x 9 aa approximate repeats' region

Full ADAM29 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADAM29 p.Val772Leu Uncertain significance ★ ⚠ same residue
ADAM29 p.Ala314Glu Uncertain significance ★ ⚠ same type
ADAM29 p.Ala88Val Uncertain significance ★ ⚠ same type
ADAM29 p.Arg213Cys Uncertain significance ★ ⚠ same type
ADAM29 p.Arg311His Uncertain significance ★ ⚠ same type
ADAM29 p.Arg501His Uncertain significance ★ ⚠ same type
ADAM29 p.Arg530Cys Uncertain significance ★ ⚠ same type
ADAM29 p.Arg723Cys 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/adam29-p-val772met (accessed [today's date]).

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