PRRC2C

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			7 clinvar	7 clinvar		14
missense			321 clinvar	14 clinvar		335
nonsense						0
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)			13 clinvar			13
Total	0	0	344	21	0	365

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001387844.1	RefSeq	NP_001374773.1	34	MANE Select
ENST00000647382.2	Ensembl	ENSP00000495867.2	34	MANE Select
NM_015172.4	RefSeq	NP_055987.2	33	Standard
ENST00000338920.8	Ensembl	ENSP00000343629.4	33	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

hematopoietic progenitor cell differentiation

Molecular Function

RNA binding
protein C-terminus binding

Cellular Component

cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338920
Coding exons: 33
Length: 108000
Individuals with no LoFs: 125570
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125589
p: 0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.49	1155	1.42e+3	0.814	0.0000734	18039
Missense (PolyPhen)		164	269.37	0.60882		3489
Synonymous	-1.00	529	500	1.06	0.0000252	5697
Loss of Function	10.2	10	140	0.0714	0.00000865	1617

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00012	rare
Latino/Admixed American	0.000037	0.000029	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.000070	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0970

Intolerance Scores

RVIS EVS: -0.68
RVIS percentile EVS: 15.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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