Is BTG2 p.Glu44= (c.132G>A) pathogenic?

BTG2 p.Glu44= (c.132G>A) is classified Likely benign in BTG2 (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD v4.1; Associated with EBV-positive nodal T- and NK-cell lymphoma.

What condition is associated with BTG2 p.Glu44= (c.132G>A)?

BTG2 p.Glu44= (c.132G>A) is associated with EBV-positive nodal T- and NK-cell lymphoma (ClinVar).

How common is BTG2 p.Glu44= (c.132G>A) in the general population?

BTG2 p.Glu44= (c.132G>A) is absent from gnomAD v4.1 (gnomAD).

BTG2 p.Glu44=

c.132G>A · rs1189747789 · VCV2681607

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,548,152)

Conditions

EBV-positive nodal T- and NK-cell lymphoma

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 1.3	GERP -3.5, phastCons 1
Overall
CADD	10.68	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,548,152). 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: BTG2
Protein: p.Glu44=
Coding: c.132G>A
MANE Select: NM_006763
dbSNP: rs1189747789
Type: single nucleotide variant
Location: chr1:203305738 (GRCh38)
Gene constraint: LOEUF 1.193 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.38 · 2 PDB
Residue 44: an α-helix

Full BTG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

EBV-positive nodal T- and NK-cell lymphoma

Similar variants

BTG2 c.142+3G>A Likely benign same condition
BTG2 p.Gln43Pro Likely benign ⚠ same condition
BTG2 p.Arg145Gly Uncertain significance ★ ⚠ same type
BTG2 p.Asp8Asn Uncertain significance ★ ⚠ same type
BTG2 p.Gln89Arg Uncertain significance ★ ⚠ same type
BTG2 p.Glu125Val Uncertain significance ★ ⚠ same type
BTG2 p.Glu32Gln Uncertain significance ★ ⚠ same type
BTG2 p.Gly4Arg Uncertain significance ★ ⚠ 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/btg2-p-glu44 (accessed [today's date]).

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