KIAA1958
Chr 9KIAA1958
Clinical Summary— KIAA1958
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.
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ClinVar Variants
31 Pathogenic / Likely Pathogenic· 49 VUS of 85 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.64LOEUF
pLI 0.011
Z-score 2.75
OE 0.34 (0.19–0.64)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.24Z-score
OE missense 0.83 (0.76–0.91)
342 obs / 413.1 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.34 (0.19–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.76–0.91)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 7 / 20.4Missense obs/exp: 342 / 413.1Syn Z: -0.15
ClinVar Variant Classifications
85 submitted variants in ClinVar
Classification Summary
Pathogenic27
Likely Pathogenic4
VUS49
Likely Benign4
Benign1
27
Pathogenic
4
Likely Pathogenic
49
VUS
4
Likely Benign
1
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 44 | 5 | 0 | 49 |
Likely Benign | 0 | 2 | 1 | 1 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 46 | 38 | 1 | 85 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KIAA1958 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Suppressed transcript diversity and immune response in COVID-19 ICU patients: a longitudinal study
Mehta P et al.·Life Sci Alliance
2023Cohort
Unanticipated broad phylogeny of BEN DNA binding domains revealed by structural homology searches
Pan A et al.·Curr Biol
2023
Solitary fibrous tumor with IGF-II-induced non-islet cell tumor hypoglycemia: a case report and molecular characterization by next-generation sequencing
Niedra H et al.·Front Oncol
2023Case report
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study.
Hayden LP et al.·Respir Res
2018
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools