NUTM2G

Gene

NUT family member 2G

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

FAM22G

MANE transcript

NM_001170741.3

Inheritance

—

ClinVar variants

U:150B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr9:96,928,310-96,940,253

External References & Databases

Ensembl (ENSG00000188152)

Transcript & Mutation Effects

hg38 • Region Span ~11.9 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 NUTM2G variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 159

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001170741.3. 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				1 clinvar		1
missense			150 clinvar	10 clinvar		160
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	150	11	0	161

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001170741.3	RefSeq	NP_001164212.1	7	MANE Select
ENST00000372322.4	Ensembl	ENSP00000361397.3	7	MANE Select
NM_001045477.4	RefSeq	NP_001038942.1	7	Standard
ENST00000354649.7	Ensembl	ENSP00000346670.2	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372322
Coding exons: 7
Length: 11944
Individuals with no LoFs: 124587
Homozygous LoFs: 0
Heterozygous LoFs: 100
Defined: 124687
p: 0.000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.395	426	404	1.06	0.0000229	4594
Missense (PolyPhen)		134	122.99	1.0895		1621
Synonymous	-1.40	196	173	1.14	0.0000105	1615
Loss of Function	0.662	16	19.1	0.837	0.00000108	198

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00053	0.00052	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0016	0.0016	notable
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00029	0.00029	rare
South Asian	0.00062	0.00062	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1
RVIS percentile EVS: 90.69

Essentials

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

Gene Damage Prediction

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