ASNSD1

Chr 2

asparagine synthetase domain containing 1

Also known as: NBLA00058, NS3TP1

NCBI Gene: 54529 ENSG00000138381 OMIM: 619739

This protein is predicted to function as an asparagine synthase, catalyzing asparagine biosynthesis from glutamine. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that mutations likely cause severe developmental disorders, though specific disease associations have not yet been established. Predicted involvement in adipose and skeletal muscle development suggests potential impacts on growth and metabolic function.

OMIM ResearchSummary from RefSeq

Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Predicted to be involved in asparagine biosynthetic process. Predicted to act upstream of or within adipose tissue development; skeletal muscle tissue development; and transdifferentiation. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.47

Clinical Summary— ASNSD1

⚡

Population Constraint (gnomAD)

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

📋

ClinVar Variants

73 VUS of 83 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.47LOEUF

pLI 0.000

Z-score -0.20

OE 1.05 (0.76–1.47)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.53Z-score

OE missense 0.92 (0.84–1.01)

312 obs / 339.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.05 (0.76–1.47)

0≤0.351.4

Missense OE?0.92 (0.84–1.01)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 24 / 22.9Missense obs/exp: 312 / 339.5Syn Z: 0.05

ClinVar Variant Classifications

83 submitted variants in ClinVar

ClinVar

Classification Summary

VUS73

Likely Benign5

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	73	0	73
Likely Benign	4	1	5
Benign	0	0	0
Total	77	1	78

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

View in ClinVar →

28 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap ASNSD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →