chr11:62694688:ATACG> Detail (hg38) (BSCL2, HNRNPUL2-BSCL2)

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

Genome

Assembly	Position
hg19	chr11:62,462,160-62,462,164
hg38	chr11:62,694,688-62,694,692

HGVS

BSCL2
HNRNPUL2-BSCL2

Type	Transcript	Protein
RefSeq	NM_001130702.2:c.314_318delCGTAT	NP_001124174.2:p.Tyr106CysfsTer6
	NM_001122955.3:c.506_510delCGTAT	NP_001116427.1:p.Tyr170CysfsTer6
	NR_037948.1:c.506_510delCGTAT
	NR_037949.1:c.506_510delCGTAT
	NM_032667.6:c.314_318delCGTAT	NP_116056.3:p.Tyr106CysfsTer6
Ensemble	ENST00000278893.11:c.314_318delCGTAT	ENST00000278893.11:p.Tyr106CysfsTer6
	ENST00000360796.10:c.506_510delCGTAT	ENST00000360796.10:p.Tyr170CysfsTer6
	ENST00000403550.5:c.314_318delCGTAT	ENST00000403550.5:p.Tyr106CysfsTer6
	ENST00000405837.5:c.506_510delCGTAT	ENST00000405837.5:p.Tyr170CysfsTer6
	ENST00000407022.7:c.314_318delCGTAT	ENST00000407022.7:p.Tyr106CysfsTer6
	ENST00000421906.5:c.314_318delCGTAT	ENST00000421906.5:p.Tyr106CysfsTer6
	ENST00000449636.6:c.14_18delCGTAT	ENST00000449636.6:p.Tyr6CysfsTer6
	ENST00000524862.6:c.506_510delCGTAT	ENST00000524862.6:p.Tyr170CysfsTer6
	ENST00000679883.1:c.506_510delCGTAT	ENST00000679883.1:p.Tyr170CysfsTer6
	ENST00000682223.1:c.506_510delCGTAT	ENST00000682223.1:p.Tyr170CysfsTer6
	ENST00000683296.1:c.506_510delCGTAT	ENST00000683296.1:p.Tyr170CysfsTer6
	ENST00000684067.1:c.506_510delCGTAT	ENST00000684067.1:p.Tyr170CysfsTer6
	ENST00000684475.1:c.506_510delCGTAT	ENST00000684475.1:p.Tyr170CysfsTer6

Type	Transcript	Protein
RefSeq	NR_037946.1:c.561_557delCGTAT
Ensemble	ENST00000403734.2:c.561_557delCGTAT

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

BSCL2
HNRNPUL2-BSCL2

Type	Database	ID	Link
Gene	MIM	606158	OMIM
	HGNC	15832	HGNC
	Ensembl	ENSG00000168000	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	49189	HGNC
	Ensembl	ENSG00000234857	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-12-26	no assertion criteria provided	congenital generalized lipodystrophy type 2	germline	Detail
Pathogenic	2013-06-01	no assertion criteria provided	Severe neurodegenerative syndrome with lipodystrophy	germline	Detail
Pathogenic	2019-04-01	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2016-01-06	no assertion criteria provided	Berardinelli-Seip congenital lipodystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) AND Congenital generalized lipodystrophy type 2	ClinVar	Detail
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) AND Severe neurodegenerative syndrome with lipodystr...	ClinVar	Detail
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) AND not provided	ClinVar	Detail
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) AND Berardinelli-Seip congenital lipodystrophy	ClinVar	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: rs587777608 dbSNP
Genome: hg38
Position: chr11:62,694,688-62,694,692
Variant Type: snv
Reference Allele: ATACG
Alternative Allele: -

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