FAM124B

family with sequence similarity 124 member B

Basic information

Region (hg38): 2:224378698-224402107

Links

ENSG00000124019NCBI:79843OMIM:618403HGNC:26224Uniprot:Q9H5Z6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM124B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM124B 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
29
clinvar
4
clinvar
33
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 29 4 0

Variants in FAM124B

This is a list of pathogenic ClinVar variants found in the FAM124B region.

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

Position Type Phenotype Significance ClinVar
2-224379629-G-A not specified Uncertain significance (May 17, 2023)2546958
2-224379638-A-G not specified Uncertain significance (Nov 08, 2022)2323812
2-224379666-G-T not specified Uncertain significance (Apr 15, 2024)3277136
2-224379725-T-C not specified Uncertain significance (Oct 25, 2024)3511605
2-224379814-T-C not specified Uncertain significance (Dec 08, 2021)2410917
2-224379827-A-C not specified Uncertain significance (Jan 24, 2023)2478532
2-224379859-G-A not specified Uncertain significance (Jan 21, 2025)3847263
2-224379863-C-T not specified Uncertain significance (Oct 20, 2024)3511601
2-224379893-G-A not specified Uncertain significance (Apr 01, 2024)3277135
2-224380031-G-A not specified Uncertain significance (Sep 14, 2021)3091771
2-224380043-G-A not specified Uncertain significance (Oct 08, 2024)3511604
2-224380049-G-A not specified Uncertain significance (Nov 21, 2024)3511602
2-224380060-G-T not specified Uncertain significance (May 26, 2023)2517822
2-224380127-C-T not specified Likely benign (Jan 31, 2023)2471203
2-224401063-A-T not specified Uncertain significance (Aug 01, 2024)3511603
2-224401088-G-C not specified Uncertain significance (Aug 08, 2023)2594618
2-224401218-A-G not specified Uncertain significance (Jan 22, 2025)3847265
2-224401246-C-T not specified Uncertain significance (Apr 03, 2023)2532285
2-224401266-T-C not specified Uncertain significance (Mar 23, 2022)2279601
2-224401300-C-G not specified Uncertain significance (Feb 28, 2024)3091770
2-224401323-T-G not specified Uncertain significance (Apr 22, 2022)2349786
2-224401353-C-T not specified Uncertain significance (Feb 23, 2023)2488193
2-224401436-A-C not specified Likely benign (Feb 23, 2023)2455903
2-224401446-G-A not specified Uncertain significance (Feb 25, 2025)3847266
2-224401458-C-T not specified Uncertain significance (Nov 27, 2023)3091768

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM124Bprotein_codingprotein_codingENST00000409685 223388
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001070.5901256840531257370.000211
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6782212510.8800.00001382969
Missense in Polyphen8079.2091.01915
Synonymous0.5281021090.9360.00000658935
Loss of Function0.815912.10.7475.15e-7139

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007710.000770
Ashkenazi Jewish0.000.00
East Asian0.0003280.000326
Finnish0.000.00
European (Non-Finnish)0.0001150.000114
Middle Eastern0.0003280.000326
South Asian0.0004400.000425
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0902

Intolerance Scores

loftool
0.900
rvis_EVS
0.04
rvis_percentile_EVS
57.15

Haploinsufficiency Scores

pHI
0.0707
hipred
N
hipred_score
0.146
ghis
0.476

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.709

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam124b
Phenotype

Gene ontology

Biological process
Cellular component
nucleoplasm;mitochondrion
Molecular function
protein binding