FAM167B

family with sequence similarity 167 member B

Basic information

Region (hg38): 1:32247222-32248856

Previous symbols: [ "C1orf90" ]

Links

ENSG00000183615NCBI:84734HGNC:28133Uniprot:Q9BTA0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM167B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM167B 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
16
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 16 0 0

Variants in FAM167B

This is a list of pathogenic ClinVar variants found in the FAM167B region.

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

Position Type Phenotype Significance ClinVar
1-32247432-G-A not specified Uncertain significance (Apr 14, 2022)3091970
1-32247438-T-C not specified Uncertain significance (Jan 19, 2024)3091971
1-32247467-G-A not specified Uncertain significance (Oct 12, 2024)3511789
1-32247536-C-T not specified Uncertain significance (Jun 11, 2021)3091969
1-32247587-C-T not specified Uncertain significance (Sep 24, 2024)3511790
1-32247626-G-T not specified Uncertain significance (Aug 27, 2024)3511791
1-32247656-G-A not specified Uncertain significance (Jul 11, 2022)2213885
1-32248374-G-A not specified Uncertain significance (May 28, 2024)3277224
1-32248401-G-T not specified Uncertain significance (Apr 14, 2022)2283058
1-32248402-C-T not specified Uncertain significance (Apr 20, 2023)2568587
1-32248404-G-C not specified Uncertain significance (Jul 12, 2023)2601661
1-32248501-T-C not specified Uncertain significance (Aug 17, 2022)2308083
1-32248507-T-C not specified Uncertain significance (Nov 17, 2022)2326691
1-32248519-C-T not specified Uncertain significance (Dec 01, 2022)2331510
1-32248579-C-A not specified Uncertain significance (Feb 14, 2025)3847398
1-32248581-C-T not specified Uncertain significance (Dec 18, 2023)3091972
1-32248596-T-C not specified Uncertain significance (Dec 01, 2022)2330881

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM167Bprotein_codingprotein_codingENST00000373582 21624
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0007740.5521251070301251370.000120
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3727382.50.8850.000004361004
Missense in Polyphen2931.0110.93514399
Synonymous0.6803338.40.8600.00000184355
Loss of Function0.38956.030.8293.25e-764

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001830.000158
Ashkenazi Jewish0.000.00
East Asian0.0001790.000165
Finnish0.000.00
European (Non-Finnish)0.0001990.000185
Middle Eastern0.0001790.000165
South Asian0.00007230.0000653
Other0.0001780.000164

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
0.447
hipred
N
hipred_score
0.279
ghis
0.494

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.694

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam167b
Phenotype