Is PDCD10 p.Ser71= (c.213C>T) pathogenic?

PDCD10 p.Ser71= (c.213C>T) is classified Likely benign in PDCD10 (ClinVar, Single submitter, 2 submitters; last evaluated 2023-08-09). Ultra-rare (popmax 0.0424%, eas); Associated with cerebral cavernous malformation 3.

What condition is associated with PDCD10 p.Ser71= (c.213C>T)?

PDCD10 p.Ser71= (c.213C>T) is associated with cerebral cavernous malformation 3 (ClinVar).

How common is PDCD10 p.Ser71= (c.213C>T) in the general population?

PDCD10 p.Ser71= (c.213C>T) is ultra-rare (popmax 0.0424%, eas) (gnomAD).

PDCD10 p.Ser71=

c.213C>T · rs201316215 · VCV771288

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0424%, eas)

Conditions

cerebral cavernous malformation 3

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.173	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.3	GERP -2.6, phastCons 1
Overall
CADD	12.76	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0424% East Asian · 19/44,840 alleles

Filtering AF 0.0277% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.023%

Overall 0.00552% 89/1,611,614 alleles · ultra-rare exomes 82/1,459,388 · genomes 7/152,226 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0424%	2,360
South Asian	0.0253%	3,958
Remaining individualsnot grpmax-eligible	0.00961%	10,406
European (non-Finnish)	0.0034%	29,446
African / African-American	0.00133%	74,968

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: PDCD10
Protein: p.Ser71=
Coding: c.213C>T
MANE Select: NM_007217
dbSNP: rs201316215
Type: single nucleotide variant
Location: chr3:167697064 (GRCh38)
Gene constraint: LOEUF 0.924 · pLI 0.64 (gnomAD)
Structure: AlphaFold pLDDT 90.82 · 10 PDB

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

Disease context

cerebral cavernous malformation 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PDCD10 p.Ser71Asn Uncertain significance ★ ⚠ same residue
PDCD10 p.Ser71fs Pathogenic ★★ same residue
PDCD10 p.Ser71Gly Uncertain significance ★ ⚠ same residue
PDCD10 c.396-2A>G Pathogenic ★★ same condition
PDCD10 c.474+5G>A Pathogenic/Likely pathogenic ★★ same condition
PDCD10 c.557+1G>A Pathogenic ★★ same condition
PDCD10 p.Arg108Ter Pathogenic ★★ same condition
PDCD10 p.Arg196Ter Pathogenic ★★ 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/pdcd10-p-ser71 (accessed [today's date]).

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