Is PDGFRA p.Val332= (c.996C>T) pathogenic?

PDGFRA p.Val332= (c.996C>T) is classified Benign/Likely benign in PDGFRA (ClinVar, Multiple submitters, 13 submitters; last evaluated 2026-06-16). Rare (popmax 0.361%, nfe); Associated with polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.

What condition is associated with PDGFRA p.Val332= (c.996C>T)?

PDGFRA p.Val332= (c.996C>T) is associated with polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, gastrointestinal stromal tumor, idiopathic hypereosinophilic syndrome (ClinVar).

How common is PDGFRA p.Val332= (c.996C>T) in the general population?

PDGFRA p.Val332= (c.996C>T) is rare (popmax 0.361%, nfe) (gnomAD).

PDGFRA p.Val332=

c.996C>T · rs142498442 · VCV221101

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 13 submitters

gnomAD v4.1

Rare

rare (popmax 0.361%, nfe)

Conditions

polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

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 0.005	GERP -2.4, phastCons 0.79
Overall
CADD	5.665	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.361% European (non-Finnish) · 4,264/1,180,004 alleles

Filtering AF 0.352% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.349%

Overall 0.287% 4,628/1,614,148 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.361%	277
Admixed American	0.27%	370
Remaining individualsnot grpmax-eligible	0.229%	437
African / African-American	0.0573%	1,746
Middle Eastern	0.0495%	2,021
Finnishnot grpmax-eligible	0.0109%	9,149
Ashkenazi Jewishnot grpmax-eligible	0.0101%	9,868
South Asian	0.00329%	30,356

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: PDGFRA
Protein: p.Val332=
Coding: c.996C>T
MANE Select: NM_006206
dbSNP: rs142498442
Type: single nucleotide variant
Location: chr4:54267616 (GRCh38)
Gene constraint: LOEUF 0.264 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 72.91 · 19 PDB
Residue 332: the ig-like c2-type 4 domain

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

Disease context

polyps, multiple and recurrent inflammatory fibroid, gastrointestinal — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: gastrointestinal stromal tumor idiopathic hypereosinophilic syndrome hereditary neoplastic syndrome

Similar variants

PDGFRA p.Val332Asp Uncertain significance ★★ ⚠ same residue
PDGFRA p.Val332Ala Uncertain significance ★ ⚠ same residue
PDGFRA p.Val332Ile Uncertain significance ★ ⚠ same residue
PDGFRA c.1364+3A>G Uncertain significance ★★ same condition
PDGFRA c.1364+4T>C Uncertain significance ★★ same condition
PDGFRA c.1787-5C>G Uncertain significance ★★ same condition
PDGFRA c.2002+2T>C Uncertain significance ★★ same condition
PDGFRA c.2002+4G>A Uncertain significance ★★ same condition

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/pdgfra-p-val332 (accessed [today's date]).

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