Is PDCD10 p.Arg45fs (c.131dup) pathogenic?

PDCD10 p.Arg45fs (c.131dup) is classified Pathogenic in PDCD10 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-10-28). Absent from gnomAD; Associated with cerebral cavernous malformation 1.

What condition is associated with PDCD10 p.Arg45fs (c.131dup)?

PDCD10 p.Arg45fs (c.131dup) is associated with cerebral cavernous malformation 1 (ClinVar).

How common is PDCD10 p.Arg45fs (c.131dup) in the general population?

PDCD10 p.Arg45fs (c.131dup) is absent from gnomAD (gnomAD).

PDCD10 p.Arg45fs

c.131dup · rs2108438340 · VCV1338866

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cerebral cavernous malformation 1

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 4 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.3	GERP 1.4, phastCons 1

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: PDCD10
Protein: p.Arg45fs
Coding: c.131dup
MANE Select: NM_007217
dbSNP: rs2108438340
Type: Duplication
Location: chr3:167704860 (GRCh38)
Gene constraint: LOEUF 0.924 · pLI 0.64 (gnomAD)
Structure: AlphaFold pLDDT 90.82 · 10 PDB
Residue 45: an α-helix

Full PDCD10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cerebral cavernous malformation 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PDCD10 p.Asn195fs Pathogenic/Likely pathogenic ★★ same type
PDCD10 p.Ser71fs Pathogenic ★★ same type
PDCD10 p.Thr177fs Pathogenic/Likely pathogenic ★★ same type
PDCD10 c.474+1dup Likely pathogenic ★ same type
PDCD10 p.Asn104fs Likely pathogenic ★ same type
PDCD10 p.Asn156fs Pathogenic ★ same type
PDCD10 p.Asn37fs Likely pathogenic ★ same type
PDCD10 p.Ile198fs Pathogenic ★ 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/pdcd10-p-arg45fs (accessed [today's date]).

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