Is STAT3 p.Asp237= (c.711C>T) pathogenic?

STAT3 p.Asp237= (c.711C>T) is classified Benign in STAT3 (ClinVar, Multiple submitters, 6 submitters; last evaluated 2026-01-27). Low-frequency (popmax 2.17%, afr); Associated with hyper-IgE recurrent infection syndrome 1, autosomal dominant.

What condition is associated with STAT3 p.Asp237= (c.711C>T)?

STAT3 p.Asp237= (c.711C>T) is associated with hyper-IgE recurrent infection syndrome 1, autosomal dominant (ClinVar).

How common is STAT3 p.Asp237= (c.711C>T) in the general population?

STAT3 p.Asp237= (c.711C>T) is low-frequency (popmax 2.17%, afr) (gnomAD).

STAT3 p.Asp237=

Q: How is Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

c.711C>T · rs17882069 · VCV36793

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.17%, afr)

Conditions

hyper-IgE recurrent infection syndrome 1, autosomal dominant

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -5.7	GERP -3.7
Overall
CADD	0.91	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.17% African / African-American · 1,627/75,008 alleles

Filtering AF 2.08% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.05%

Overall 0.116% 1,878/1,614,138 alleles · low-frequency exomes 894/1,461,894 · genomes 984/152,244 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.17%	46
Admixed American	0.158%	632
Remaining individualsnot grpmax-eligible	0.133%	753
Middle Eastern	0.0495%	2,021
European (non-Finnish)	0.00568%	17,612
South Asian	0.00329%	30,361

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: STAT3
Protein: p.Asp237=
Coding: c.711C>T
MANE Select: NM_139276
dbSNP: rs17882069
Type: single nucleotide variant
Location: chr17:42337521 (GRCh38)

Full STAT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hyper-IgE recurrent infection syndrome 1, autosomal dominant — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency (Orphanet):

Inheritance: Autosomal dominant
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

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/stat3-p-asp237 (accessed [today's date]).

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