TUBGCP6

Chr 22AR

tubulin gamma complex component 6

Also known as: GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR

NCBI Gene: 85378 ENSG00000128159 UniProt: Q96RT7 OMIM: 610053

TUBGCP6 encodes a component of the gamma-tubulin ring complex (gTuRC) that mediates microtubule nucleation at the centrosome, which is critical for centrosome duplication and spindle formation. Biallelic mutations cause microcephaly and chorioretinopathy, autosomal recessive, 1, affecting both brain development and retinal structure. This follows autosomal recessive inheritance and has an associated GeneReviews entry for additional clinical guidance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.931 OMIM phenotype

Clinical Summary— TUBGCP6

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Gene-Disease Validity (ClinGen)

microcephaly and chorioretinopathy 1 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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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

19 unique Pathogenic / Likely Pathogenic· 90 VUS of 287 total submissions

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GeneReview available — TUBGCP6

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.93LOEUF

pLI 0.000

Z-score 2.10

OE 0.74 (0.60–0.93)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.94Z-score

OE missense 1.08 (1.03–1.13)

1215 obs / 1125.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.74 (0.60–0.93)

0≤0.351.4

Missense OE?1.08 (1.03–1.13)

0≤0.61.4

Synonymous OE?1.24

0≤1.21.6

LoF obs/exp: 59 / 79.2Missense obs/exp: 1215 / 1125.8Syn Z: -4.14

ClinVar Variant Classifications

287 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11

Likely Pathogenic8

VUS90

Likely Benign150

Benign10

Conflicting2

Pathogenic

Likely Pathogenic

VUS

150

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	11	0	0	0	11
Likely Pathogenic	8	0	0	0	8
VUS	1	83	5	1	90
Likely Benign	0	6	26	118	150
Benign	0	2	2	6	10
Conflicting	—				2
Total	20	91	33	125	271

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap TUBGCP6 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →