GALNT17

Chr 7

polypeptide N-acetylgalactosaminyltransferase 17

Also known as: GALNACT17, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17

NCBI Gene: 64409 ENSG00000185274 UniProt: Q49A17 OMIM: 615137

This gene encodes an N-acetylgalactosaminyltransferase that catalyzes the initial step in O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine to serine or threonine residues on protein receptors. The gene is highly constrained against loss-of-function variants and is located near the Williams-Beuren syndrome deletion region at 7q11.23, but specific disease associations with GALNT17 mutations have not been established. The protein may contribute to membrane trafficking processes.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 0.49

Clinical Summary— GALNT17

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.

📋

ClinVar Variants

70 VUS of 87 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.49LOEUF

pLI 0.117

Z-score 3.57

OE 0.26 (0.15–0.49)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.44Z-score

OE missense 0.65 (0.58–0.72)

243 obs / 376.2 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.26 (0.15–0.49)

0≤0.351.4

Missense OE?0.65 (0.58–0.72)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 7 / 27.0Missense obs/exp: 243 / 376.2Syn Z: 1.05

ClinVar Variant Classifications

87 submitted variants in ClinVar

ClinVar

Classification Summary

VUS70

Likely Benign1

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	70	0	0	70
Likely Benign	1	0	0	1
Benign	0	1	1	2
Total	71	1	1	73

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

View in ClinVar →

23 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap GALNT17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →