Is DNMBP p.Thr951fs (c.2852_2855del) pathogenic?

DNMBP p.Thr951fs (c.28522855del) is classified Pathogenic in DNMBP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-06). Absent from gnomAD; Associated with cataract 48.

What condition is associated with DNMBP p.Thr951fs (c.2852_2855del)?

DNMBP p.Thr951fs (c.2852_2855del) is associated with cataract 48 (ClinVar).

How common is DNMBP p.Thr951fs (c.2852_2855del) in the general population?

DNMBP p.Thr951fs (c.2852_2855del) is absent from gnomAD (gnomAD).

DNMBP p.Thr951fs

c.2852_2855del · rs1564723150 · VCV626919

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

cataract 48

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -6.7	GERP -3.7

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: DNMBP
Protein: p.Thr951fs
Coding: c.2852_2855del
MANE Select: NM_015221
dbSNP: rs1564723150
Type: Deletion
Location: chr10:99898151 (GRCh38)
Gene constraint: LOEUF 0.664 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 64.91 · 7 PDB
Residue 951: a UniProt-annotated variant site (in ctrct48); the dh domain

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

Disease context

cataract 48 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DNMBP p.Gly481fs Likely pathogenic ★ same condition
DNMBP p.Glu982_Asp983insTer Pathogenic same condition
DNMBP c.3156+7A>G Benign ★★ same condition
DNMBP p.Asn961= Benign ★★ same condition
DNMBP p.Cys1413Trp Benign ★★ same condition
DNMBP p.Pro1248= Benign ★★ same condition
DNMBP p.Pro444= Benign ★★ same condition
DNMBP p.Ser1440= Benign ★★ 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/dnmbp-p-thr951fs (accessed [today's date]).

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