FAM53C

family with sequence similarity 53 member C

Basic information

Region (hg38): 5:138331935-138349729

Previous symbols: [ "C5orf6" ]

Links

ENSG00000120709NCBI:51307OMIM:609372HGNC:1336Uniprot:Q9NYF3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM53C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM53C 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
32
clinvar
32
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 32 0 0

Variants in FAM53C

This is a list of pathogenic ClinVar variants found in the FAM53C region.

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

Position Type Phenotype Significance ClinVar
5-138341354-G-A not specified Uncertain significance (Nov 21, 2024)3512341
5-138341372-A-T not specified Uncertain significance (Mar 01, 2025)3847785
5-138341397-G-A not specified Uncertain significance (Sep 26, 2024)3512343
5-138341829-C-A not specified Uncertain significance (Jan 16, 2025)3847789
5-138344869-T-C not specified Uncertain significance (Apr 25, 2022)2285294
5-138344884-A-C not specified Uncertain significance (Jul 02, 2024)3512339
5-138344917-C-T not specified Uncertain significance (Feb 28, 2023)2491114
5-138344932-A-G not specified Uncertain significance (Jan 31, 2023)2462967
5-138344935-C-T not specified Uncertain significance (Oct 27, 2021)2361237
5-138344936-G-A not specified Uncertain significance (Feb 21, 2024)3092502
5-138344943-C-CT Autism Uncertain significance (-)3338184
5-138344948-C-A not specified Uncertain significance (Feb 28, 2023)2491672
5-138344986-C-T not specified Uncertain significance (Jan 17, 2025)3847793
5-138345043-C-T not specified Uncertain significance (Sep 27, 2022)2395845
5-138345049-C-T not specified Uncertain significance (Oct 27, 2021)2257518
5-138345073-C-T not specified Uncertain significance (Jul 06, 2021)2383574
5-138345097-G-A not specified Uncertain significance (Mar 03, 2025)3847787
5-138345118-C-A not specified Uncertain significance (Dec 10, 2024)3512340
5-138345131-G-A not specified Uncertain significance (Jan 07, 2025)3847791
5-138345145-G-A not specified Uncertain significance (Mar 01, 2025)3847786
5-138345178-C-G not specified Uncertain significance (Feb 17, 2025)3847788
5-138345178-C-T Uncertain significance (-)91932
5-138345183-G-T not specified Uncertain significance (Apr 23, 2024)3277477
5-138345185-G-A not specified Uncertain significance (Jun 30, 2022)2208994
5-138345254-A-G not specified Uncertain significance (Jan 23, 2024)3092503

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM53Cprotein_codingprotein_codingENST00000239906 417793
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.06760.930125742061257480.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6692122410.8790.00001622511
Missense in Polyphen5472.8370.74138650
Synonymous-0.3599893.61.050.00000525861
Loss of Function2.64516.60.3010.00000103155

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00004410.0000439
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.408
rvis_EVS
-0.38
rvis_percentile_EVS
27.69

Haploinsufficiency Scores

pHI
0.661
hipred
Y
hipred_score
0.533
ghis
0.578

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.605

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam53c
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
protein binding