Is CAMP p.Pro94= (c.282A>G) pathogenic?

CAMP p.Pro94= (c.282A>G) is classified Benign in CAMP (ClinVar, Single submitter, 1 submitter; last evaluated 2018-04-03). Rare (popmax 0.836%, afr).

How common is CAMP p.Pro94= (c.282A>G) in the general population?

CAMP p.Pro94= (c.282A>G) is rare (popmax 0.836%, afr) (gnomAD).

CAMP p.Pro94=

c.282A>G · rs112279864 · VCV708654

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.836%, afr)

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 -9.9
Overall
CADD	0.044	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.836% African / African-American · 627/75,022 alleles

Filtering AF 0.782% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.76%

Overall 0.126% 2,032/1,613,458 alleles · rare

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	1.65%	61
African / African-Americangrpmax	0.836%	120
East Asian	0.357%	280
Remaining individualsnot grpmax-eligible	0.266%	376
Middle Eastern	0.215%	466
Admixed American	0.197%	509
European (non-Finnish)	0.0363%	2,756
South Asian	0.034%	2,938
Finnishnot grpmax-eligible	0.00312%	32,008

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: CAMP
Protein: p.Pro94=
Coding: c.282A>G
MANE Select: NM_004345
dbSNP: rs112279864
Type: single nucleotide variant
Location: chr3:48224434 (GRCh38)
Gene constraint: LOEUF 1.204 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.74 · 20 PDB
Residue 94: a disulfide bond; an α-helix

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

Similar variants

CAMP p.Gly69Trp Uncertain significance ★ ⚠ same type
CAMP p.Ile29Ser Uncertain significance ★ ⚠ same type
CAMP p.Leu40Pro Uncertain significance ★ ⚠ same type
CAMP p.Pro63Leu Uncertain significance ★ ⚠ same type
CAMP p.Leu104= Likely benign ★ same type
CAMP p.Lys145Arg Benign ★ 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/camp-p-pro94 (accessed [today's date]).

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