Is CSF2RB p.Pro648Arg (c.1943_1944delinsGG) pathogenic?

CSF2RB p.Pro648Arg (c.19431944delinsGG) is classified Uncertain significance in CSF2RB (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-05). No gnomAD frequency available for this variant.

How common is CSF2RB p.Pro648Arg (c.1943_1944delinsGG) in the general population?

CSF2RB p.Pro648Arg (c.1943_1944delinsGG) is no gnomAD frequency available for this variant (gnomAD).

CSF2RB p.Pro648Arg

c.1943_1944delinsGG · rs2518009174 · VCV2980273

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.89	GERP -1.3
Regional constraint	o/e 1.07	unconstrained · MANE · 1,937 bp · p 0.11 · regional, not allelic

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.Pro648Arg
Coding: c.1943_1944delinsGG
MANE Select: NM_000395
dbSNP: rs2518009174
Type: Indel
Location: chr22:36937751 (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 648: the 'disordered' region

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

Similar variants

CSF2RB p.Pro648Leu Uncertain significance ★★ same residue
CSF2RB p.Pro648= Benign ★★ same residue
CSF2RB p.Pro648Ser Uncertain significance ★ ⚠ same residue
CSF2RB c.854+15_854+16delinsAA Uncertain significance ★ same type
CSF2RB p.Ala725Asn Uncertain significance ★ same type
CSF2RB p.Ser617Asn Uncertain significance ★ same type
CSF2RB c.1152+20_1152+21delinsCG Likely benign ★ same type
CSF2RB c.1152+20_1152+22delinsCGC 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/csf2rb-p-pro648arg (accessed [today's date]).

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