NUDT17

Chr 1

nudix hydrolase 17

NCBI Gene: 200035 ENSG00000186364 UniProt: P0C025

Predicted to enable NADH pyrophosphatase activity. Predicted to be involved in NAD catabolic process; NADH metabolic process; and NADP catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Apr 2025]

Research

ResearchGenerating clinical summary…

LOEUF 1.18

Clinical Summary— NUDT17

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

53 VUS of 65 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 1.01

OE 0.74 (0.48–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.73Z-score

OE missense 1.15 (1.03–1.30)

205 obs / 177.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.74 (0.48–1.18)

0≤0.351.4

Missense OE?1.15 (1.03–1.30)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 13 / 17.6Missense obs/exp: 205 / 177.6Syn Z: -1.19

ClinVar Variant Classifications

65 submitted variants in ClinVar

ClinVar

Classification Summary

VUS53

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	53	53
Likely Benign	3	3
Benign	0	0
Total	56	56

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

134 pathogenic / likely-pathogenic (of 208) ClinVar copy-number / structural variants overlap NUDT17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →