Is CSF2RB p.Arg211fs (c.631del) pathogenic?

CSF2RB p.Arg211fs (c.631del) is classified Pathogenic in CSF2RB (ClinVar, No assertion criteria, 1 submitter; last evaluated 2011-03-01). Absent from gnomAD; Associated with surfactant metabolism dysfunction, pulmonary, 5.

What condition is associated with CSF2RB p.Arg211fs (c.631del)?

CSF2RB p.Arg211fs (c.631del) is associated with surfactant metabolism dysfunction, pulmonary, 5 (ClinVar).

How common is CSF2RB p.Arg211fs (c.631del) in the general population?

CSF2RB p.Arg211fs (c.631del) is absent from gnomAD (gnomAD).

How is Hereditary pulmonary alveolar proteinosis inherited?

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

CSF2RB p.Arg211fs

c.631del · rs2517990619 · VCV29744

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

surfactant metabolism dysfunction, pulmonary, 5

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 6 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.5	GERP 1.5, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CSF2RB
Protein: p.Arg211fs
Coding: c.631del
MANE Select: NM_000395
dbSNP: rs2517990619
Type: Deletion
Location: chr22:36929718 (GRCh38)
Gene constraint: LOEUF 0.511 · pLI 0.93 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 65.50 · 10 PDB
Residue 211: the fibronectin type-iii 1 domain; a β-strand

Full CSF2RB gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

surfactant metabolism dysfunction, pulmonary, 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary pulmonary alveolar proteinosis (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult, Childhood, Elderly, Infancy
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

CSF2RB p.Arg211Gln Uncertain significance ★★ ⚠ same residue
CSF2RB p.Arg211= Likely benign ★ same residue
CSF2RB p.Arg461Cys Uncertain significance ★★ ⚠ same condition
CSF2RB p.Glu533Lys Uncertain significance ★★ ⚠ same condition
CSF2RB p.Gly845Ser Uncertain significance ★★ ⚠ same condition
CSF2RB p.Pro648Leu Uncertain significance ★★ same condition
CSF2RB p.Thr196Asn Uncertain significance ★★ ⚠ same condition
CSF2RB p.Thr50Ile 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/csf2rb-p-arg211fs (accessed [today's date]).

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