chr11:62469971:T>C Detail (hg19) (BSCL2, HNRNPUL2-BSCL2)

Information

Genome

Assembly Position
hg19 chr11:62,469,971-62,469,971
hg38 chr11:62,702,499-62,702,499 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NR_037948.1:c.455A>G
NR_037949.1:c.455A>G
NM_001130702.2:c.263A>G NP_001124174.2:p.Asn88Ser
Type Transcript Protein
RefSeq NR_037946.1:c.*506A>G
Ensemble ENST00000403734.2:c.*506A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 tgv42794625 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 tgv42794625 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-27 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 17 germline unknown Detail
Pathogenic 2018-10-09 criteria provided, single submitter Neuronopathy, distal hereditary motor, type 5A germline paternal Detail
Pathogenic 2023-12-14 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2023-05-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-09-19 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-06-17 criteria provided, multiple submitters, no conflicts Neuronopathy, distal hereditary motor, type 5C germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter Peripheral neuropathy germline Detail
Pathogenic 2020-09-24 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Pathogenic 2023-06-06 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2016-01-06 no assertion criteria provided Berardinelli-Seip congenital lipodystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.242 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor... BeFree 20598714 Detail
0.001 Peripheral motor neuropathy To understand the underlying mechanisms how the mutations lead to motor neuropat... BeFree 23470542 Detail
<0.001 Astrocytoma In this study, we show that expression of seipin N-glycosylation mutant N88S led... BeFree 23250914 Detail
0.001 motor neuron disease N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-relate... BeFree 21750110 Detail
0.242 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in ... BeFree 18790819 Detail
<0.001 Spastic The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gl... BeFree 21750110 Detail
0.365 Spastic paraplegia 17 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor... BeFree 20598714 Detail
0.242 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seip... BeFree 21750110 Detail
0.003 Russell-Silver syndrome N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor... BeFree 20598714 Detail
0.323 congenital generalized lipodystrophy type 2 Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip co... BeFree 23470542 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Hereditary spastic paraplegia 17 ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Neuronopathy, distal hereditary motor, type 5A ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND not provided ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND not specified ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Neuronopathy, distal hereditary motor, type 5C ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Peripheral neuropathy ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Hereditary spastic paraplegia ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Inborn genetic diseases ClinVar Detail
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) AND Berardinelli-Seip congenital lipodystrophy ClinVar Detail
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V o... DisGeNET Detail
To understand the underlying mechanisms how the mutations lead to motor neuropathy, we generated tra... DisGeNET Detail
In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased trigly... DisGeNET Detail
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disea... DisGeNET Detail
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have... DisGeNET Detail
The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal ... DisGeNET Detail
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V o... DisGeNET Detail
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associat... DisGeNET Detail
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V o... DisGeNET Detail
Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrop... 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
rs137852972 dbSNP
Genome
hg19
Position
chr11:62,469,971-62,469,971
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs137852972
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8646
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)
120430
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.30357884248111E-6
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