chr6:31934291:GTGGACAGGGTCAGGAATCAGGAGTCTG> Detail (hg38) (C2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr6:31,902,068-31,902,095
hg38	chr6:31,934,291-31,934,318

HGVS

C2

Type	Transcript	Protein
RefSeq	NM_000063.5:c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	NP_000054.2:p.Val281_Arg283del
	NM_001282458.1:c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	NP_001269387.1:p.Val281_Arg283del
	NM_001282459.1:c.841_868delGTGGACAGGGTCAGGAATCAGGAGTCTG	NP_001269388.1:p.Val281ProfsTer110
	NM_001145903.2:c.445_453+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	NP_001139375.1:p.Val149_Arg151del
	NM_001178063.2:c.346+326_346+353delGTGGACAGGGTCAGGAATCAGGAGTCTG
	NM_001282457.1:c.111+508_111+535delGTGGACAGGGTCAGGAATCAGGAGTCTG
Ensemble	ENST00000299367.10:c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000299367.10:p.Val281_Arg283del
	ENST00000418949.6:c.841_868delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000418949.6:p.Val281ProfsTer110
	ENST00000442278.6:c.445_453+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000442278.6:p.Val149_Arg151del
	ENST00000447952.7:c.655_663+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000447952.7:p.Val219_Arg221del
	ENST00000452323.7:c.346+326_346+353delGTGGACAGGGTCAGGAATCAGGAGTCTG
	ENST00000469372.5:c.111+508_111+535delGTGGACAGGGTCAGGAATCAGGAGTCTG
	ENST00000497706.6:c.210+326_210+353delGTGGACAGGGTCAGGAATCAGGAGTCTG
	ENST00000695637.1:c.436_444+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000695637.1:p.Val146_Arg148del
	ENST00000695638.1:c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000695638.1:p.Val281_Arg283del
	ENST00000695644.1:c.445_453+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	ENST00000695644.1:p.Val149_Arg151del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

C2

Type	Database	ID	Link
Gene	MIM	613927	OMIM
	HGNC	1248	HGNC
	Ensembl	ENSG00000166278	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv341123053	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-04-04	criteria provided, conflicting interpretations	complement component 2 deficiency	germline	Detail
Pathogenic Likely pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	1992-05-05	no assertion criteria provided	C2 deficiency, type I	germline	Detail
Pathogenic	2022-04-18	criteria provided, single submitter	complement component 2 deficiency,age related macular degeneration 14	unknown	Detail
Pathogenic	2022-04-18	criteria provided, single submitter	complement component 2 deficiency,age related macular degeneration 14	unknown	Detail
Pathogenic Likely pathogenic	2023-12-09	criteria provided, multiple submitters, no conflicts	C2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	complement component 2 deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000063.6(C2):c.841_849+19del AND Complement component 2 deficiency	ClinVar	Detail
NM_000063.6(C2):c.841_849+19del AND not provided	ClinVar	Detail
NM_000063.6(C2):c.841_849+19del AND C2 deficiency, type I	ClinVar	Detail
NM_000063.6(C2):c.841_849+19del AND multiple conditions	ClinVar	Detail
NM_000063.6(C2):c.841_849+19del AND multiple conditions	ClinVar	Detail
NM_000063.6(C2):c.841_849+19del AND C2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs9332736 dbSNP
Genome: hg38
Position: chr6:31,934,291-31,934,318
Variant Type: snv
Reference Allele: GTGGACAGGGTCAGGAATCAGGAGTCTG
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121204
Allele Counts in All Race (ExAC): 619
Heterozygous Counts in All Race (ExAC): 617
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.0051070921751757365

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