FAM83C

family with sequence similarity 83 member C, the group of Family with sequence similarity 83

Basic information

Region (hg38): 20:35285731-35292425

Previous symbols: [ "C20orf128" ]

Links

ENSG00000125998 ∙ NCBI:128876 ∙ ∙ HGNC:16121 ∙ Uniprot:Q9BQN1 ∙ 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 FAM83C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM83C 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	2	3
missense			66	8		74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	66	9	2

Variants in FAM83C

This is a list of pathogenic ClinVar variants found in the FAM83C region.

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

Position	Type	Phenotype	Significance	ClinVar
20-35286540-A-G		not specified	Uncertain significance (Apr 01, 2024)
20-35286549-G-C		not specified	Uncertain significance (Feb 11, 2022)
20-35286574-C-G		not specified	Uncertain significance (Aug 20, 2023)
20-35286643-G-T		not specified	Uncertain significance (May 23, 2024)
20-35286671-C-T		not specified	Uncertain significance (Apr 07, 2022)
20-35286764-C-T		not specified	Uncertain significance (Apr 24, 2024)
20-35286770-T-G		not specified	Uncertain significance (Jul 21, 2021)
20-35286824-T-C		not specified	Likely benign (Aug 02, 2021)
20-35286828-G-A		not specified	Uncertain significance (Nov 03, 2022)
20-35286953-G-A		not specified	Uncertain significance (Nov 10, 2022)
20-35287005-C-G		not specified	Uncertain significance (Aug 20, 2024)
20-35287104-A-G		not specified	Likely benign (Mar 15, 2024)
20-35287110-G-A		not specified	Uncertain significance (Dec 13, 2022)
20-35287119-G-T		not specified	Uncertain significance (Nov 06, 2024)
20-35287121-C-T		not specified	Likely benign (Sep 06, 2022)
20-35287167-C-T		not specified	Uncertain significance (Mar 06, 2023)
20-35287176-G-A		not specified	Likely benign (Jan 07, 2022)
20-35287200-C-A		not specified	Uncertain significance (Jan 16, 2024)
20-35287221-C-T		not specified	Uncertain significance (Jul 09, 2021)
20-35287226-C-T		not specified	Uncertain significance (Oct 26, 2021)
20-35287241-G-C		not specified	Uncertain significance (Jun 09, 2022)
20-35287265-C-T		not specified	Likely benign (Feb 28, 2024)
20-35287266-G-A		not specified	Uncertain significance (Jul 13, 2022)
20-35287287-T-C		not specified	Uncertain significance (Sep 03, 2024)
20-35287288-C-A		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM83C	protein_coding	protein_coding	ENST00000374408	4	6671

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.24e-8	0.739	125645	0	101	125746	0.000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.111	492	485	1.01	0.0000312	4736
Missense in Polyphen		145	165.87	0.87418		1729
Synonymous	0.138	194	196	0.987	0.0000113	1662
Loss of Function	1.33	14	20.5	0.684	0.00000111	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00162	0.00161
Ashkenazi Jewish	0.000895	0.000893
East Asian	0.00120	0.00120
Finnish	0.0000525	0.0000462
European (Non-Finnish)	0.000217	0.000211
Middle Eastern	0.00120	0.00120
South Asian	0.000327	0.000327
Other	0.000510	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in MAPK signaling. {ECO:0000303|PubMed:24736947}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.793
• rvis_EVS: -0.1
• rvis_percentile_EVS: 45.66

Haploinsufficiency Scores

• pHI: 0.0721
• hipred: N
• hipred_score: 0.170
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.382

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam83c

Gene ontology

• Molecular function: protein kinase binding