FAM83C

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	2 clinvar	3
missense			83 clinvar	10 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	11	2	96

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein kinase binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374408
Coding exons: 4
Length: 6671
Individuals with no LoFs: 125645
Homozygous LoFs: 0
Heterozygous LoFs: 101
Defined: 125746
p: 0.000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.111	492	485	1.01	0.0000312	4736
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.00089	0.00089	rare
East Asian	0.0012	0.0012	notable
Finnish	0.000053	0.000046	rare
European (Non-Finnish)	0.00022	0.00021	rare
South Asian	0.00033	0.00033	rare
Other	0.00051	0.00049	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.382

Gene Damage Prediction

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