Is KAT6B p.Pro1760= (c.5280G>A) pathogenic?

KAT6B p.Pro1760= (c.5280G>A) is classified Likely benign in KAT6B (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-27). Ultra-rare (popmax 0.0735%, eas); Associated with genitopatellar syndrome.

What condition is associated with KAT6B p.Pro1760= (c.5280G>A)?

KAT6B p.Pro1760= (c.5280G>A) is associated with genitopatellar syndrome (ClinVar).

How common is KAT6B p.Pro1760= (c.5280G>A) in the general population?

KAT6B p.Pro1760= (c.5280G>A) is ultra-rare (popmax 0.0735%, eas) (gnomAD).

KAT6B p.Pro1760=

c.5280G>A · rs530795452 · VCV1614950

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0735%, eas)

Conditions

genitopatellar syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -6.9	GERP -3.9
Overall
CADD	1.295	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0735% East Asian · 33/44,904 alleles

Filtering AF 0.0537% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.047%

Overall 0.00465% 75/1,614,092 alleles · ultra-rare exomes 71/1,461,882 · genomes 4/152,210 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0735%	1,361
South Asian	0.0176%	5,693
Remaining individualsnot grpmax-eligible	0.008%	12,496
European (non-Finnish)	0.00178%	56,192

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: KAT6B
Protein: p.Pro1760=
Coding: c.5280G>A
MANE Select: NM_012330
dbSNP: rs530795452
Type: single nucleotide variant
Location: chr10:75030104 (GRCh38)
Gene constraint: LOEUF 0.098 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 49.67 · 3 PDB
Residue 1760: the 'interaction with runx1 and runx2' region

Full KAT6B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Similar variants

KAT6B p.Pro1760Leu Likely benign ★ same residue
KAT6B p.Pro1760Gln Uncertain significance ★ ⚠ same residue
KAT6B c.3664+1G>A Pathogenic ★★ same condition
KAT6B p.Arg1058Ter Pathogenic ★★ same condition
KAT6B p.Arg1797Ter Pathogenic ★★ same condition
KAT6B p.Gln1752Ter Pathogenic ★★ same condition
KAT6B c.2373+6C>A Uncertain significance ★★ same condition
KAT6B c.2374-3T>C Uncertain significance ★★ 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/kat6b-p-pro1760 (accessed [today's date]).

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