KIAA1614

Chr 1

KIAA1614

NCBI Gene: 57710 ENSG00000135835 UniProt: Q5VZ46

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.00

Clinical Summary— KIAA1614

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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

206 VUS of 235 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?

1.00LOEUF

pLI 0.000

Z-score 1.56

OE 0.73 (0.54–1.00)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.53Z-score

OE missense 0.94 (0.88–1.01)

654 obs / 693.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.73 (0.54–1.00)

0≤0.351.4

Missense OE?0.94 (0.88–1.01)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 29 / 39.6Missense obs/exp: 654 / 693.5Syn Z: 0.77

This gene — mechanism propensity

0.6066th %ile

GOF

0.6345th %ile

LOF

0.49top 25%

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

235 submitted variants in ClinVar

ClinVar

Classification Summary

VUS206

Likely Benign18

Benign1

206

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	205	0	206
Likely Benign	0	15	3	18
Benign	0	1	0	1
Total	1	221	3	225

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

View in ClinVar →

28 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap KIAA1614 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →