IFT70B

Chr 2

intraflagellar transport 70B

Also known as: IFT70, TTC30B, fleer

NCBI Gene: 150737 ENSG00000196659 UniProt: Q8N4P2 OMIM: 620742

Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.13

Clinical Summary— IFT70B

⚡

Population Constraint (gnomAD)

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

📋

ClinVar Variants

85 VUS of 106 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?

1.13LOEUF

pLI 0.000

Z-score 1.14

OE 0.72 (0.48–1.13)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.57Z-score

OE missense 1.09 (1.00–1.18)

371 obs / 341.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.72 (0.48–1.13)

0≤0.351.4

Missense OE?1.09 (1.00–1.18)

0≤0.61.4

Synonymous OE?1.23

0≤1.21.6

LoF obs/exp: 14 / 19.4Missense obs/exp: 371 / 341.3Syn Z: -2.10

ClinVar Variant Classifications

106 submitted variants in ClinVar

ClinVar

Classification Summary

VUS85

Likely Benign18

Benign2

Conflicting1

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	0	85	0	0	85
Likely Benign	0	10	0	8	18
Benign	0	1	0	1	2
Conflicting	—				1
Total	0	96	0	9	106

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

View in ClinVar →

30 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap IFT70B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →