ABHD17C

Chr 15

abhydrolase domain containing 17C, depalmitoylase

Also known as: FAM108C1

NCBI Gene: 58489 ENSG00000136379 UniProt: Q6PCB6

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Dual constrained — LoF & missense intolerant

LoF Constraint?

0.30LOEUF

pLI 0.958

Z-score 2.91

OE 0.00 (0.00–0.30)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

3.14Z-score

OE missense 0.31 (0.25–0.40)

52 obs / 165.7 exp

Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.30)

0≤0.351.4

Missense OE?0.31 (0.25–0.40)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 0 / 9.9Missense obs/exp: 52 / 165.7Syn Z: 0.34

Background carrier burden — how many people carry a rare variant somewhere in ABHD17C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 420

301 rare PASS variants

Rare truncating (LoF)

1 in 7,900

30 rare PASS variants

Rare synonymous (reference)

1 in 150

245 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ABHD17C. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 430	1 in 8,600
South Asian	~43k	1 in 440	≈ 1 in 35,000
Remaining (unassigned)	~30k	1 in 660	≈ 1 in 24,000
European (Finnish)	~27k	1 in 1,500	≈ 1 in 7,300
Admixed American	~22k	1 in 330	≈ 1 in 11,000
African / African American	~21k	1 in 530	≈ 1 in 10,000
East Asian	~20k	1 in 310	1 in 2,300
Ashkenazi Jewish	~13k	1 in 1,300	≈ 1 in 3,900
Middle Eastern	~2,884	≈ 1 in 780	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 2 of 3 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 3.? see exons ↓