chr15:42408227:C>T Detail (hg38) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,700,425-42,700,425 View the variant detail on this assembly version.
hg38 chr15:42,408,227-42,408,227

HGVS

Type Transcript Protein
RefSeq NM_173089.1:c.-81-1076C>T
NM_173087.1:c.1639-1076C>T
NM_024344.1:c.1799C>T NP_077320.1:p.Ser600Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 tgv391031610 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic muscular dystrophy, limb-girdle, autosomal recessive germline MGS000064
(TMGS000131) 		Fumihiko Matsuda
Ichizo Nishino		 The Rare Disease Data Registry of Japan
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-08-31 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic Likely pathogenic 2023-11-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Pathogenic 2023-08-16 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy germline Detail
Pathogenic 2023-10-26 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disord... UNIPROT 10330340 Detail
0.036 Muscular Dystrophies, Limb-Girdle Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mut... BeFree 15843148 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND Autosomal recessive limb-girdle muscular dystrophy ty... ClinVar Detail
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND Autosomal recessive limb-girdle muscular dystrophy ClinVar Detail
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mai... DisGeNET Detail
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alterna... 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
rs199806879 dbSNP
Genome
hg38
Position
chr15:42,408,227-42,408,227
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1566042100393245E-4
Chromosome Counts in All Race (ExAC)
121336
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4724731324586273E-5
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