CENPV

Chr 17

centromere protein V

Also known as: 3110013H01Rik, CENP-V, PRR6, p30

NCBI Gene: 201161 ENSG00000166582 UniProt: Q7Z7K6 OMIM: 608139

The protein is required for centromere formation and organization, chromosome alignment, and cytokinesis, and is essential for proper distribution of pericentromeric heterochromatin during cell division. Mutations in this gene cause autosomal recessive primary microcephaly with seizures and developmental delay. The gene shows moderate tolerance to loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. Involved in several processes, including centromere complex assembly; pericentric heterochromatin formation; and positive regulation of cytokinesis. Acts upstream of or within ameboidal-type cell migration. Located in several cellular components, including midbody; nucleus; and spindle midzone. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.74

Clinical Summary— CENPV

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.

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ClinVar Variants

36 VUS of 43 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?

0.74LOEUF

pLI 0.332

Z-score 2.08

OE 0.23 (0.10–0.74)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.44Z-score

OE missense 0.63 (0.52–0.76)

75 obs / 119.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.23 (0.10–0.74)

0≤0.351.4

Missense OE?0.63 (0.52–0.76)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 2 / 8.6Missense obs/exp: 75 / 119.3Syn Z: 0.16

ClinVar Variant Classifications

43 submitted variants in ClinVar

ClinVar

Classification Summary

VUS36

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	36	36
Likely Benign	1	1
Benign	1	1
Total	38	38

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

View in ClinVar →

25 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap CENPV — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →