Is MAFB p.Pro51= (c.153A>G) pathogenic?

MAFB p.Pro51= (c.153A>G) is classified Uncertain significance in MAFB (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). Absent from gnomAD v4.1; Associated with multicentric carpo-tarsal osteolysis with or without nephropathy.

What condition is associated with MAFB p.Pro51= (c.153A>G)?

MAFB p.Pro51= (c.153A>G) is associated with multicentric carpo-tarsal osteolysis with or without nephropathy (ClinVar).

How common is MAFB p.Pro51= (c.153A>G) in the general population?

MAFB p.Pro51= (c.153A>G) is absent from gnomAD v4.1 (gnomAD).

MAFB p.Pro51=

c.153A>G · rs755631858 · VCV896500

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

multicentric carpo-tarsal osteolysis with or without nephropathy

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 -13	GERP -4.8
Overall
CADD	2.309	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MAFB
Protein: p.Pro51=
Coding: c.153A>G
MANE Select: NM_005461
dbSNP: rs755631858
Type: single nucleotide variant
Location: chr20:40688698 (GRCh38)
Gene constraint: LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.87
Residue 51: the 'disordered' region

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

Disease context

multicentric carpo-tarsal osteolysis with or without nephropathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MAFB p.Pro59Leu Pathogenic/Likely pathogenic ★★ same condition
MAFB p.Ser54Leu Pathogenic ★★ ⚠ same condition
MAFB p.Ser70Leu Pathogenic/Likely pathogenic ★★ same condition
MAFB p.Thr62Ala Pathogenic ★★ same condition
MAFB c.-77C>G Uncertain significance ★★ same condition
MAFB p.Ala110Glu Uncertain significance ★★ ⚠ same condition
MAFB p.Ala176Thr Uncertain significance ★★ ⚠ same condition
MAFB p.Ala288Val 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/mafb-p-pro51 (accessed [today's date]).

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