FAM228B

family with sequence similarity 228 member B

Basic information

Region (hg38): 2:24076526-24169640

Links

ENSG00000219626 ∙ NCBI:375190 ∙ ∙ HGNC:24736 ∙ Uniprot:P0C875 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM228B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM228B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2			2
non coding			18	14	4	36
Total	0	0	26	14	4

Variants in FAM228B

This is a list of pathogenic ClinVar variants found in the FAM228B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-24077571-A-C		TP53I3-related disorder	Likely benign (Jan 22, 2024)
2-24077572-T-C		TP53I3-related disorder	Likely benign (Apr 09, 2024)
2-24077628-A-G		not specified	Uncertain significance (Mar 20, 2023)
2-24077647-G-C		not specified	Uncertain significance (Aug 05, 2024)
2-24077655-G-A		not specified	Uncertain significance (Sep 07, 2022)
2-24077693-T-C		TP53I3-related disorder	Benign (Oct 30, 2019)
2-24077699-G-A		TP53I3-related disorder • not specified	Likely benign (Feb 26, 2024)
2-24077769-A-G		TP53I3-related disorder	Likely benign (Sep 04, 2024)
2-24079447-A-C		TP53I3-related disorder	Likely benign (Oct 26, 2022)
2-24079456-A-G		TP53I3-related disorder	Likely benign (Mar 17, 2023)
2-24079475-A-G		not specified	Uncertain significance (Mar 29, 2023)
2-24079505-G-C		TP53I3-related disorder	Likely benign (Jul 19, 2022)
2-24079506-A-G		not specified	Uncertain significance (Nov 17, 2022)
2-24079514-G-T		not specified	Uncertain significance (May 07, 2024)
2-24079528-A-G		TP53I3-related disorder	Likely benign (Jan 18, 2024)
2-24079560-G-A		TP53I3-related disorder	Uncertain significance (Jul 18, 2024)
2-24079593-C-T		TP53I3-related disorder	Likely benign (Mar 05, 2022)
2-24079594-C-T		TP53I3-related disorder	Likely benign (May 30, 2024)
2-24080826-G-T		not specified	Uncertain significance (Nov 12, 2024)
2-24080835-C-T		TP53I3-related disorder	Benign (Dec 18, 2019)
2-24080836-G-A		TP53I3-related disorder • not specified	Uncertain significance (May 24, 2023)
2-24080853-C-G		TP53I3-related disorder	Likely benign (Aug 04, 2022)
2-24080899-A-T		not specified	Uncertain significance (Mar 18, 2024)
2-24080921-C-T		not specified	Uncertain significance (May 02, 2024)
2-24080953-C-A		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM228B	protein_coding	protein_coding	ENST00000420135	10	93114

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.86e-7	0.439	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.812	111	138	0.805	0.00000646	2140
Missense in Polyphen		27	36.915	0.7314		645
Synonymous	0.583	42	47.1	0.892	0.00000230	530
Loss of Function	0.765	12	15.2	0.788	6.41e-7	269

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.570

Essentials

• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam228b