FAM234A

family with sequence similarity 234 member A

Basic information

Region (hg38): 16:234520-272183

Previous symbols: [ "C16orf9", "ITFG3" ]

Links

ENSG00000167930 ∙ NCBI:83986 ∙ ∙ HGNC:14163 ∙ Uniprot:Q9H0X4 ∙ 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 FAM234A gene.

• Inborn genetic diseases (40 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM234A 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				3	2	5
missense			22	6	2	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			10	2		12
Total	0	0	32	11	4

Variants in FAM234A

This is a list of pathogenic ClinVar variants found in the FAM234A region.

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

Position	Type	Phenotype	Significance	ClinVar
16-254447-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-254484-A-G		not specified	Uncertain significance (Sep 26, 2022)
16-254522-A-T		not specified	Uncertain significance (Feb 28, 2024)
16-254536-G-T		not specified	Uncertain significance (Jan 25, 2023)
16-254550-G-A		not specified	Uncertain significance (Jun 18, 2021)
16-254565-C-A		not specified	Uncertain significance (Oct 26, 2022)
16-254571-T-C		not specified	Uncertain significance (Nov 21, 2023)
16-254603-T-G		not specified	Uncertain significance (Nov 08, 2022)
16-259493-C-G		not specified	Uncertain significance (Aug 15, 2023)
16-259497-C-T			Likely benign (May 30, 2018)
16-260006-G-A			Benign (Mar 29, 2018)
16-260019-A-T		not specified	Uncertain significance (Dec 19, 2023)
16-260023-C-T		not specified	Uncertain significance (Dec 20, 2022)
16-260138-C-G		not specified	Uncertain significance (Aug 15, 2023)
16-261467-G-A		not specified	Likely benign (Jun 06, 2023)
16-261480-C-G		not specified	Uncertain significance (Jan 05, 2022)
16-261499-C-T			Likely benign (Aug 14, 2018)
16-261507-G-A			Benign (May 30, 2018)
16-262171-G-C		not specified	Uncertain significance (Mar 29, 2022)
16-262219-C-G		not specified	Uncertain significance (Jun 28, 2022)
16-262462-G-A		not specified	Uncertain significance (Feb 17, 2022)
16-263262-C-T		not specified	Likely benign (Dec 22, 2023)
16-263290-G-A		not specified	Uncertain significance (Oct 25, 2023)
16-263323-G-T		not specified	Uncertain significance (Mar 29, 2023)
16-263336-C-G		not specified	Likely benign (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM234A	protein_coding	protein_coding	ENST00000399932	11	35398

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.46e-12	0.0994	124645	0	179	124824	0.000717

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.734	400	361	1.11	0.0000242	3564
Missense in Polyphen		114	111.36	1.0237		1220
Synonymous	-0.729	174	162	1.07	0.0000123	1163
Loss of Function	0.587	20	23.0	0.868	0.00000124	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.00103
Ashkenazi Jewish	0.00	0.00
East Asian	0.000389	0.000389
Finnish	0.000186	0.000186
European (Non-Finnish)	0.00105	0.00104
Middle Eastern	0.000389	0.000389
South Asian	0.000229	0.000229
Other	0.00182	0.00181

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.96

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.132
• ghis: 0.518

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam234a

Gene ontology

• Biological process: biological_process
• Cellular component: cell surface;integral component of membrane;extracellular exosome
• Molecular function: molecular_function