NUTM2B

Gene

NUT family member 2B

Gene summary

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

Previous symbols:

FAM22B

MANE transcript

NM_001278495.2

Inheritance

—

ClinVar variants

B:10

Top phenotype

Oculopharyngeal myopathy with leukoencephalopathy 1

gnomAD constraint

pLI —, LoF o/e 0.59

Max pathogenic AF

—

Genomic locus

chr10:79,703,227-79,714,681

External References & Databases

Ensembl (ENSG00000188199)

Transcript & Mutation Effects

hg38 • Region Span ~11.5 kb

Loading mutation effect viewer...

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 NUTM2B variants in ClinVar

3 Conditions Cataloged

not providedTotal: 8

Oculopharyngeal myopathy with leukoencephalopathy 1Total: 2

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001278495.2. 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				6 clinvar		6
missense				2 clinvar		2
nonsense						0
start loss						0
frameshift					2 clinvar	2
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	8	2	10

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_001278495.2	RefSeq	NP_001265424.1	7	MANE Select
ENST00000429828.7	Ensembl	ENSP00000394623.1	7	MANE Select
ENST00000372321.6	Ensembl	ENSP00000361396.2	7	Standard
ENST00000372321.7	Ensembl	ENSP00000361396.2	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000429828
Coding exons: 7
Length: 11455
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.888	133	165	0.806	0.00000904	5399
Missense (PolyPhen)		27	33.18	0.81374		1589
Synonymous	0.199	66	68.1	0.969	0.00000388	1860
Loss of Function	0.864	3	5.11	0.588	2.33e-7	248

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Gene Damage Prediction

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