FAM167A

family with sequence similarity 167 member A

Basic information

Region (hg38): 8:11421476-11475908

Previous symbols: [ "C8orf13" ]

Links

ENSG00000154319 ∙ NCBI:83648 ∙ OMIM:610085 ∙ HGNC:15549 ∙ Uniprot:Q96KS9 ∙ 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 FAM167A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM167A 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				1		1
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	28	3	0

Variants in FAM167A

This is a list of pathogenic ClinVar variants found in the FAM167A region.

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

Position	Type	Phenotype	Significance	ClinVar
8-11424383-G-T		not specified	Uncertain significance (Jan 05, 2022)
8-11424399-T-C		not specified	Uncertain significance (Dec 08, 2023)
8-11424418-G-A			Likely benign (Sep 01, 2022)
8-11424438-T-C		not specified	Uncertain significance (Apr 07, 2023)
8-11424473-C-A		not specified	Uncertain significance (Feb 13, 2024)
8-11424473-C-T		not specified	Uncertain significance (Apr 05, 2024)
8-11424490-C-G		not specified	Uncertain significance (Dec 21, 2022)
8-11424533-C-A		not specified	Uncertain significance (Sep 16, 2021)
8-11424579-C-T		not specified	Uncertain significance (Dec 12, 2022)
8-11424590-C-T		not specified	Uncertain significance (Apr 22, 2024)
8-11424591-G-A		not specified	Uncertain significance (Feb 06, 2024)
8-11444045-G-A		not specified	Uncertain significance (Jun 09, 2022)
8-11444056-G-C		not specified	Uncertain significance (Mar 31, 2022)
8-11444059-T-A		not specified	Uncertain significance (May 20, 2024)
8-11444095-G-T		not specified	Uncertain significance (Nov 09, 2021)
8-11444102-G-C		not specified	Uncertain significance (Apr 07, 2022)
8-11444107-G-T		not specified	Likely benign (Mar 07, 2024)
8-11444124-C-G		not specified	Uncertain significance (Jan 10, 2023)
8-11444139-G-T		not specified	Uncertain significance (Dec 19, 2022)
8-11444171-G-A		not specified	Uncertain significance (Oct 03, 2022)
8-11444201-A-T		not specified	Uncertain significance (Aug 02, 2021)
8-11444216-C-T		not specified	Uncertain significance (Mar 06, 2023)
8-11444288-G-A		not specified	Uncertain significance (Jun 08, 2022)
8-11444290-G-C		not specified	Uncertain significance (Oct 05, 2023)
8-11444293-T-C		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM167A	protein_coding	protein_coding	ENST00000284486	2	53253

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-11	0.00330	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.73	192	136	1.42	0.00000867	1385
Missense in Polyphen		83	57.64	1.44		614
Synonymous	-3.31	90	58.0	1.55	0.00000368	450
Loss of Function	-2.38	13	6.47	2.01	2.77e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000207	0.000206
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.000220	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.000220	0.000217
South Asian	0.000198	0.000196
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0815

Intolerance Scores

• loftool: 0.576
• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.17

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.300
• ghis: 0.435

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam167a

Gene ontology

• Molecular function: protein binding