Is FIBP p.Arg348= (c.1044C>T) pathogenic?

FIBP p.Arg348= (c.1044C>T) is classified Likely benign in FIBP (ClinVar, Single submitter, 1 submitter; last evaluated 2018-06-20). Rare (popmax 0.105%, eas).

How common is FIBP p.Arg348= (c.1044C>T) in the general population?

FIBP p.Arg348= (c.1044C>T) is rare (popmax 0.105%, eas) (gnomAD).

FIBP p.Arg348=

c.1044C>T · rs200017030 · VCV782714

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.105%, eas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.141	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.7	GERP -2.8
Overall
CADD	5.774	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.105% East Asian · 47/44,880 alleles

Filtering AF 0.0808% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0725%

Overall 0.00774% 125/1,613,952 alleles · rare exomes 99/1,461,656 · genomes 26/152,296 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.105%	955
Admixed American	0.08%	1,250
South Asian	0.0165%	6,067
Remaining individualsnot grpmax-eligible	0.0144%	6,944
European (non-Finnish)	0.000508%	196,660

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: FIBP
Protein: p.Arg348=
Coding: c.1044C>T
MANE Select: NM_004214
dbSNP: rs200017030
Type: single nucleotide variant
Location: chr11:65884004 (GRCh38)
Gene constraint: LOEUF 1.009 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.33

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

Similar variants

FIBP p.Arg348Cys Uncertain significance ★ ⚠ same residue
FIBP p.Asp223Gly Uncertain significance ★★ same type
FIBP p.Leu352Arg Uncertain significance ★★ ⚠ same type
FIBP c.1004+33T>C Benign ★★ same type
FIBP p.Ala50= Benign ★★ same type
FIBP p.Gly187= Likely benign ★★ same type
FIBP p.Gly263= Likely benign ★★ same type
FIBP p.Leu240= Benign/Likely 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/fibp-p-arg348 (accessed [today's date]).

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