C5orf58

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						0
missense			1 clinvar	1 clinvar		2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	1	0	2

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001102609.3	RefSeq	NP_001096079.2	2	MANE Select
ENST00000593851.5	Ensembl	ENSP00000490013.2	2	MANE Select
NM_001305393.2	RefSeq	NP_001292322.2	2	Standard
NM_001305394.2	RefSeq	NP_001292323.2	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000521850
Coding exons: 3
Length: 20129
Individuals with no LoFs: 124574
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 124583
p: 0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.395	39	46.6	0.837	0.00000205	670
Missense (PolyPhen)		6	7.6564	0.78366		112
Synonymous	-0.380	19	17.0	1.12	7.98e-7	185
Loss of Function	0.599	2	3.15	0.636	1.32e-7	50

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000063	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000089	rare
South Asian	0.00013	0.00013	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.677
RVIS EVS: 0.26
RVIS percentile EVS: 69.83

Essentials

Essential (CRISPR): N

Gene Damage Prediction

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