chr15:42693952:C>T Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,693,952-42,693,952
hg38 chr15:42,401,754-42,401,754 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024344.1:c.1468C>T NP_077320.1:p.Arg490Trp
NM_173087.1:c.1324C>T NP_775110.1:p.Arg442Trp
NM_000070.2:c.1468C>T NP_000061.1:p.Arg490Trp
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 114240 OMIM
HGNC 1480 HGNC
Ensembl ENSG00000092529 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1587837 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-13 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic 2022-02-09 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Pathogenic 2022-02-09 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Pathogenic 2019-02-11 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4 paternal Detail
Pathogenic 2023-02-20 criteria provided, multiple submitters, no conflicts CAPN3-related disorder germline Detail
Pathogenic 2024-01-16 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Limb-girdle muscular dystrophy type 2A NA CLINVAR Detail
0.573 Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disord... UNIPROT 10330340 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND Autosomal recessive limb-girdle muscular dystrophy ty... ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND CAPN3-related disorder ClinVar Detail
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) AND Autosomal recessive limb-girdle muscular dystrophy ClinVar Detail
NA DisGeNET Detail
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mai... 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
rs141656719 dbSNP
Genome
hg19
Position
chr15:42,693,952-42,693,952
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8338
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)
117674
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1047470129340381E-4
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