Is CAMP p.Asn115fs (c.345_351del) pathogenic?

CAMP p.Asn115fs (c.345351del) is classified Likely benign in CAMP (ClinVar, Single submitter, 1 submitter; last evaluated 2018-07-04). Rare (popmax 0.458%, sas).

How common is CAMP p.Asn115fs (c.345_351del) in the general population?

CAMP p.Asn115fs (c.345_351del) is rare (popmax 0.458%, sas) (gnomAD).

CAMP p.Asn115fs

c.345_351del · rs56122065 · VCV756687

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.458%, sas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon within the last 50 nt of the penultimate exon (3 of 4, 36 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.039
Overall
CADD	20.1	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.458% South Asian · 417/91,026 alleles

Filtering AF 0.422% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.408%

Overall 0.0269% 434/1,613,878 alleles · rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.458%	218
Admixed American	0.0117%	8,575
Remaining individualsnot grpmax-eligible	0.0096%	10,416
East Asian	0.00223%	44,876
European (non-Finnish)	0.000254%	393,301

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.Asn115fs
Coding: c.345_351del
MANE Select: NM_004345
dbSNP: rs56122065
Type: Deletion
Location: chr3:48224638 (GRCh38)
Gene constraint: LOEUF 1.204 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.74 · 20 PDB
Residue 115: a disulfide bond

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

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-asn115fs (accessed [today's date]).

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