chr17:48247606:C>T Detail (hg19) (SGCA)

Information

Genome

Assembly Position
hg19 chr17:48,247,606-48,247,606
hg38 chr17:50,170,245-50,170,245 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001135697.2:c.585-395C>T
NM_000023.3:c.850C>T NP_000014.1:p.Arg284Cys
Ensemble ENST00000344627.10:c.585-395C>T
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600119 OMIM
HGNC 10805 HGNC
Ensembl ENSG00000108823 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000074
(TMGS000150) 		Kenjiro Kosaki
Nishino Ichizo		 Keio University
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2D germline unknown Detail
Pathogenic 2023-01-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-07-14 criteria provided, single submitter Sarcoglycanopathy germline Detail
Pathogenic 2019-11-11 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.324 Alpha-Sarcoglycanopathies Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one ... UNIPROT 9585331 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) AND Autosomal recessive limb-girdle muscular dystrophy type... ClinVar Detail
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) AND not provided ClinVar Detail
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) AND Sarcoglycanopathy ClinVar Detail
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) AND Autosomal recessive limb-girdle muscular dystrophy ClinVar Detail
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) AND Abnormality of the musculature ClinVar Detail
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive m... 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
rs137852623 dbSNP
Genome
hg19
Position
chr17:48,247,606-48,247,606
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121260
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
15
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2370113805047008E-4
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