FAM234B

family with sequence similarity 234 member B

Basic information

Region (hg38): 12:13044380-13142521

Previous symbols: [ "KIAA1467" ]

Links

ENSG00000084444 ∙ NCBI:57613 ∙ OMIM:617838 ∙ HGNC:29288 ∙ Uniprot:A2RU67 ∙ 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 FAM234B gene.

• Inborn genetic diseases (43 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM234B 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			17	1		18
Total	0	0	42	1	0

Variants in FAM234B

This is a list of pathogenic ClinVar variants found in the FAM234B region.

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

Position	Type	Phenotype	Significance	ClinVar
12-13055618-C-T		FAM234B-related disorder	Benign (Oct 21, 2019)
12-13055621-T-G		not specified	Uncertain significance (Nov 20, 2023)
12-13055671-C-T		not specified	Uncertain significance (Sep 14, 2022)
12-13055744-C-T		FAM234B-related disorder	Likely benign (Mar 20, 2019)
12-13055753-G-A		FAM234B-related disorder	Likely benign (Aug 13, 2019)
12-13055794-C-A		FAM234B-related disorder	Benign (Apr 25, 2019)
12-13055817-G-A		not specified	Uncertain significance (Mar 01, 2023)
12-13055854-C-T		not specified	Uncertain significance (Mar 28, 2023)
12-13055891-C-T		FAM234B-related disorder	Likely benign (Aug 13, 2019)
12-13055907-C-G		not specified	Uncertain significance (Jun 29, 2022)
12-13055944-G-A		not specified	Uncertain significance (Jul 19, 2023)
12-13058531-A-G		not specified	Uncertain significance (Nov 14, 2023)
12-13058537-G-A		FAM234B-related disorder	Benign (Feb 19, 2019)
12-13061581-C-T		not specified	Uncertain significance (Oct 12, 2022)
12-13061603-A-G		FAM234B-related disorder	Benign (Oct 16, 2019)
12-13061611-C-T		not specified	Uncertain significance (Dec 28, 2022)
12-13061658-G-T		not specified	Uncertain significance (Oct 04, 2022)
12-13061661-C-G		not specified	Uncertain significance (Aug 23, 2021)
12-13061736-A-T		not specified	Uncertain significance (Feb 22, 2023)
12-13061759-G-A		FAM234B-related disorder	Likely benign (Jun 18, 2019)
12-13062859-A-G		not specified	Uncertain significance (Jun 03, 2022)
12-13066671-G-A		FAM234B-related disorder	Benign (May 01, 2019)
12-13066752-C-T		not specified	Uncertain significance (Mar 29, 2023)
12-13067265-A-G		not specified	Likely benign (Oct 24, 2023)
12-13068306-A-T		FAM234B-related disorder	Likely benign (Aug 05, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM234B	protein_coding	protein_coding	ENST00000197268	13	98238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0253	0.975	125710	0	36	125746	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.490	329	355	0.927	0.0000193	3983
Missense in Polyphen		85	114.88	0.73992		1353
Synonymous	-1.42	169	147	1.15	0.00000863	1335
Loss of Function	3.71	9	31.5	0.286	0.00000179	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000394
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000272	0.000272
Finnish	0.000370	0.000370
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.000272	0.000272
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.6

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.384
• ghis: 0.590

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam234b
• Phenotype: immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: integral component of membrane