MINPP1

Chr 10ADSomaticAR

multiple inositol-polyphosphate phosphatase 1

Also known as: HIPER1, MINPP2, MIPP, PCH16

NCBI Gene: 9562 ENSG00000107789 UniProt: Q9UNW1 OMIM: 605391

Multiple inositol polyphosphate phosphatase hydrolyzes inositol pentakisphosphate and hexakisphosphate to regulate intracellular second messenger availability and may also function as a 2,3-bisphosphoglycerate phosphatase in glycolysis. Mutations cause pontocerebellar hypoplasia type 16 with autosomal recessive inheritance and follicular thyroid carcinoma through somatic mutations. This gene is not highly constrained against loss-of-function variants and primarily affects cerebellar and brainstem development along with thyroid tissue.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

AD/Somatic/ARLOEUF 0.762 OMIM phenotypes

Clinical Summary— MINPP1

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Gene-Disease Validity (ClinGen)

pontocerebellar hypoplasia · 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

16 unique Pathogenic / Likely Pathogenic· 67 VUS of 110 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?

0.76LOEUF

pLI 0.000

Z-score 2.38

OE 0.44 (0.26–0.76)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.58Z-score

OE missense 0.90 (0.81–1.00)

240 obs / 266.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.44 (0.26–0.76)

0≤0.351.4

Missense OE?0.90 (0.81–1.00)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 9 / 20.7Missense obs/exp: 240 / 266.6Syn Z: 0.02

ClinVar Variant Classifications

110 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6

Likely Pathogenic10

VUS67

Likely Benign15

Benign6

Conflicting1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	4	2	0	0	6
Likely Pathogenic	8	2	0	0	10
VUS	1	66	0	0	67
Likely Benign	0	9	0	6	15
Benign	0	0	4	2	6
Conflicting	—				1
Total	13	79	4	8	105

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

View in ClinVar →

25 pathogenic / likely-pathogenic (of 28) ClinVar copy-number / structural variants overlap MINPP1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →