Is BPNT2 p.Gly47= (c.141C>G) pathogenic?

BPNT2 p.Gly47= (c.141C>G) is classified Likely benign in BPNT2 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-04-24). Very rare (popmax 0.00161%, nfe); Associated with BPNT2-related disorder.

What condition is associated with BPNT2 p.Gly47= (c.141C>G)?

BPNT2 p.Gly47= (c.141C>G) is associated with BPNT2-related disorder (ClinVar).

How common is BPNT2 p.Gly47= (c.141C>G) in the general population?

BPNT2 p.Gly47= (c.141C>G) is very rare (popmax 0.00161%, nfe) (gnomAD).

BPNT2 p.Gly47=

c.141C>G · rs2487133583 · VCV3057876

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00161%, nfe)

Conditions

BPNT2-related disorder

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 0.63	GERP -2.5, phastCons 1
Overall
CADD	4.868	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00161% European (non-Finnish) · 18/1,117,396 alleles

Filtering AF 0.00101% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000831%

Overall 0.00136% 18/1,321,846 alleles · very rare

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: BPNT2
Protein: p.Gly47=
Coding: c.141C>G
MANE Select: NM_017813
dbSNP: rs2487133583
Type: single nucleotide variant
Location: chr8:56993445 (GRCh38)
Gene constraint: LOEUF 0.619 · pLI 0.79 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 88.55

Full BPNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

BPNT2-related disorder

Similar variants

BPNT2 c.-4C>T Likely benign same condition
BPNT2 p.Arg187Ter Pathogenic ★★ same type
BPNT2 c.-155C>G Uncertain significance ★★ same type
BPNT2 c.*4264G>A Uncertain significance ★★ same type
BPNT2 c.*5193A>G Uncertain significance ★★ same type
BPNT2 p.Ala218Ser Uncertain significance ★★ ⚠ same type
BPNT2 p.Arg187Gln Uncertain significance ★★ ⚠ same type
BPNT2 p.Arg243Cys 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/bpnt2-p-gly47 (accessed [today's date]).

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