FAM222B

protein-coding

family with sequence similarity 222 member B

Gene summary

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C17orf63

MANE transcript

NM_001077498.3

Inheritance

—

ClinVar variants

U:76B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr17:28,755,980-28,855,232

External References & Databases

Ensembl (ENSG00000173065)

Transcript & Mutation Effects

hg38 • Region Span ~99.3 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 FAM222B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 76

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001077498.3. 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			2 clinvar		1 clinvar	3
missense			74 clinvar	4 clinvar	2 clinvar	80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	4	3	83

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 100 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001077498.3	RefSeq	NP_001070966.1	2	MANE Select
ENST00000581407.6	Ensembl	ENSP00000462419.1	2	MANE Select
NM_001288631.2	RefSeq	NP_001275560.1	2	Standard
NM_001288632.2	RefSeq	NP_001275561.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000341217
Coding exons: 2
Length: 99255
Individuals with no LoFs: 124620
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 124637
p: 0.0000682

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.418	319	341	0.936	0.0000204	3594
Missense (PolyPhen)		103	130.6	0.78866		1376
Synonymous	-1.00	164	148	1.10	0.0000100	1217
Loss of Function	2.90	4	16.8	0.238	0.00000116	150

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00010	0.000097	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.53
RVIS percentile EVS: 20.7

Essentials

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

Gene Damage Prediction

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