MYG1

protein-coding

MYG1 exonuclease, the group of Exonucleases

Gene summary

Enables 3'-5'-RNA exonuclease activity. Involved in mRNA processing; mitochondrial RNA metabolic process; and rRNA processing. Located in mitochondrion and nucleus. Is active in mitochondrial matrix; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C12orf10

MANE transcript

NM_021640.4

Inheritance

—

ClinVar variants

U:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr12:53,299,695-53,307,177

External References & Databases

Ensembl (ENSG00000139637)

Transcript & Mutation Effects

hg38 • Region Span ~7.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYG1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021640.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			11 clinvar			11
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	14	0	0	14

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021640.4	RefSeq	NP_067653.4	7	MANE Select
ENST00000267103.10	Ensembl	ENSP00000267103.5	7	MANE Select
ENST00000547864.1	Ensembl	ENSP00000455319.1	3	Standard
ENST00000548632.5	Ensembl	ENSP00000450270.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

locomotory exploration behavior

Molecular Function

molecular_function

Cellular Component

nucleus
nucleoplasm
mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000267103
Coding exons: 7
Length: 7492
Individuals with no LoFs: 125682
Homozygous LoFs: 0
Heterozygous LoFs: 65
Defined: 125747
p: 0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.278	237	225	1.05	0.0000121	2402
Missense (PolyPhen)		58	62.834	0.92306		691
Synonymous	0.147	92	93.8	0.981	0.00000487	788
Loss of Function	0.932	17	21.7	0.784	0.00000134	189

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00055	0.00055	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0.0013	0.00087	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00029	0.00027	rare
South Asian	0.00020	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0964

Intolerance Scores

LoFtool: 0.920
RVIS EVS: 0.78
RVIS percentile EVS: 87.18

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium