ATMIN

Chr 16

ATM interactor

Also known as: ASCIZ, ZNF822

NCBI Gene: 23300 ENSG00000166454 UniProt: O43313 OMIM: 614693

The ATMIN protein is a transcription factor that regulates ATM kinase activity and promotes DNA damage response through RAD51 foci formation and DYNLL1 gene activation. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental or neurological phenotypes, though specific disease associations have not yet been established in the provided data. The high constraint score indicates that pathogenic variants in this gene would be expected to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.77

Clinical Summary— ATMIN

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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

138 VUS of 158 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?

0.77LOEUF

pLI 0.000

Z-score 2.40

OE 0.47 (0.29–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.73Z-score

OE missense 1.10 (1.02–1.19)

451 obs / 409.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.47 (0.29–0.77)

0≤0.351.4

Missense OE?1.10 (1.02–1.19)

0≤0.61.4

Synonymous OE?1.21

0≤1.21.6

LoF obs/exp: 11 / 23.6Missense obs/exp: 451 / 409.2Syn Z: -2.16

ClinVar Variant Classifications

158 submitted variants in ClinVar

ClinVar

Classification Summary

VUS138

Likely Benign9

138

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	138	0	138
Likely Benign	8	1	9
Benign	0	0	0
Total	146	1	147

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

View in ClinVar →

42 pathogenic / likely-pathogenic (of 73) ClinVar copy-number / structural variants overlap ATMIN — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →