ZMYND15

Chr 17

zinc finger MYND-type containing 15

Also known as: SPGF14

NCBI Gene: 84225 ENSG00000141497 UniProt: Q9H091

This protein acts as a transcriptional repressor by recruiting histone deacetylases to regulate gene expression during spermatogenesis. Mutations cause spermatogenic failure 14, which follows autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with a recessive disorder pattern.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…

LOEUF 0.89

Clinical Summary— ZMYND15

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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

10 unique Pathogenic / Likely Pathogenic· 111 VUS of 159 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.89LOEUF

pLI 0.000

Z-score 2.12

OE 0.63 (0.46–0.89)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.12Z-score

OE missense 0.85 (0.78–0.93)

369 obs / 434.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.46–0.89)

0≤0.351.4

Missense OE?0.85 (0.78–0.93)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 24 / 38.1Missense obs/exp: 369 / 434.7Syn Z: -0.84

ClinVar Variant Classifications

159 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5

Likely Pathogenic5

VUS111

Likely Benign16

Benign3

Conflicting1

Pathogenic

Likely Pathogenic

111

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	0	0	0	5
Likely Pathogenic	5	0	0	0	5
VUS	0	110	1	0	111
Likely Benign	1	9	1	5	16
Benign	0	1	0	2	3
Conflicting	—				1
Total	11	120	2	7	141

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap ZMYND15 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →