Is DCAF17 p.Cys91fs (c.270dup) pathogenic?

DCAF17 p.Cys91fs (c.270dup) is classified Likely pathogenic in DCAF17 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2017-12-06). Ultra-rare (gnomAD MAF 7.141e-07); Associated with Woodhouse-Sakati syndrome.

What condition is associated with DCAF17 p.Cys91fs (c.270dup)?

DCAF17 p.Cys91fs (c.270dup) is associated with Woodhouse-Sakati syndrome (ClinVar).

How common is DCAF17 p.Cys91fs (c.270dup) in the general population?

DCAF17 p.Cys91fs (c.270dup) is ultra-rare (gnomAD MAF 7.141e-07) (gnomAD).

How is Woodhouse-Sakati syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DCAF17 p.Cys91fs

c.270dup · rs879253799 · VCV632550

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

ultra-rare (gnomAD MAF 7.141e-07)

Conditions

Woodhouse-Sakati syndrome

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 3 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

Global frequency 7.14e-05% via dbSNP · ultra-rare

No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.

Variant & gene context

Gene: DCAF17
Protein: p.Cys91fs
Coding: c.270dup
MANE Select: NM_025000
dbSNP: rs879253799
Type: Duplication
Location: chr2:171443558 (GRCh38)
Gene constraint: LOEUF 0.855 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.38

Full DCAF17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Woodhouse-Sakati syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Woodhouse-Sakati syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Childhood

Similar variants

DCAF17 p.Ile97fs Pathogenic ★★ same condition
DCAF17 c.732+70dup Benign ★★ same condition
DCAF17 p.Arg194fs Pathogenic ★ same condition
DCAF17 p.Glu391fs Likely pathogenic ★ same condition
DCAF17 p.Gly181fs Pathogenic ★ same condition
DCAF17 p.His357fs Pathogenic ★ same condition
DCAF17 p.Ser411fs Pathogenic ★ same condition
DCAF17 p.Thr402fs 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/dcaf17-p-cys91fs (accessed [today's date]).

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