chr15:42680002:A> Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,680,002-42,680,002
hg38 chr15:42,387,804-42,387,804 

HGVS

Type Transcript Protein
RefSeq NM_000070.2:c.550delA NP_000061.1:p.Thr184ArgfsTer36
NM_173087.1:c.550delA NP_775110.1:p.Thr184ArgfsTer36
NM_024344.1:c.550delA NP_077320.1:p.Thr184ArgfsTer36
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
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-27 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline inherited unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-06-14 criteria provided, single submitter Limb-Girdle Muscular Dystrophy, Recessive germline Detail
Pathogenic 2014-11-14 criteria provided, single submitter unknown Detail
Pathogenic 2016-03-29 no assertion criteria provided unknown Detail
Pathogenic 2014-09-24 criteria provided, single submitter muscular dystrophy,Cardiac arrhythmia unknown Detail
Pathogenic 2014-09-24 criteria provided, single submitter muscular dystrophy,Cardiac arrhythmia unknown Detail
Pathogenic 2015-05-11 criteria provided, single submitter congenital muscular dystrophy unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter muscular dystrophy unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter muscular dystrophy unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter myopathy unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter migraine unknown Detail
Pathogenic 2023-10-19 criteria provided, multiple submitters, no conflicts Muscular dystrophy, limb-girdle, autosomal dominant 4 unknown Detail
Pathogenic 2021-04-26 criteria provided, single submitter unknown Detail
Pathogenic 2022-03-05 criteria provided, single submitter CAPN3-related disorder germline Detail
Pathogenic 2021-07-20 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Pathogenic 2021-07-20 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown 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 Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type... BeFree 17702496 Detail
0.036 Muscular Dystrophies, Limb-Girdle The CAPN3 gene mutation c.550delA is rather frequently observed in German patien... BeFree 17702496 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Autosomal recessive limb-girdle muscular dystrophy type... ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Limb-Girdle Muscular Dystrophy, Recessive ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Congenital muscular dystrophy ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Muscular dystrophy ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND See cases ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND CAPN3-related disorder ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hype... DisGeNET Detail
The CAPN3 gene mutation c.550delA is rather frequently observed in German patients with LGMD2, but a... 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
rs80338800 dbSNP
Genome
hg19
Position
chr15:42,680,002-42,680,002
Variant Type
snv
Reference Allele
A
Alternative Allele
-
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)
121410
Allele Counts in All Race (ExAC)
34
Heterozygous Counts in All Race (ExAC)
34
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.8004283007989456E-4
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