Is ADAM9 p.Pro793= (c.2379A>G) pathogenic?

ADAM9 p.Pro793= (c.2379A>G) is classified Likely benign in ADAM9 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-09-23). Absent from gnomAD v4.1.

How common is ADAM9 p.Pro793= (c.2379A>G) in the general population?

ADAM9 p.Pro793= (c.2379A>G) is absent from gnomAD v4.1 (gnomAD).

ADAM9 p.Pro793=

c.2379A>G · rs905114121 · VCV1665775

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 1.3	GERP -0.053, phastCons 1
Overall
CADD	7.795	PHRED · no single calibrated threshold — expert panels disagree

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: ADAM9
Protein: p.Pro793=
Coding: c.2379A>G
MANE Select: NM_003816
dbSNP: rs905114121
Type: single nucleotide variant
Location: chr8:39103619 (GRCh38)
Gene constraint: LOEUF 0.575 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 76.14
Residue 793: the 'disordered' region

Full ADAM9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADAM9 p.Tyr213Ter Pathogenic/Likely pathogenic ★★ same type
ADAM9 c.195+5G>A Uncertain significance ★★ same type
ADAM9 c.997-3C>G Uncertain significance ★★ same type
ADAM9 p.Ala145Glu Uncertain significance ★★ ⚠ same type
ADAM9 p.Ala424Thr Uncertain significance ★★ ⚠ same type
ADAM9 p.Ala510Thr Uncertain significance ★★ ⚠ same type
ADAM9 p.Ala534Pro Uncertain significance ★★ ⚠ same type
ADAM9 p.Arg117Trp 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/adam9-p-pro793 (accessed [today's date]).

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