chr15:42680003:C>T Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,680,003-42,680,003
hg38 chr15:42,387,805-42,387,805 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000070.2:c.551C>T NP_000061.1:p.Thr184Met
NM_024344.1:c.551C>T NP_077320.1:p.Thr184Met
NM_173087.1:c.551C>T NP_775110.1:p.Thr184Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign Likely benign
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 tgv52709324 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2022-02-18 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline Detail
Likely benign 2020-05-15 criteria provided, single submitter not provided unknown Detail
Likely benign 2021-09-20 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Likely benign 2021-09-20 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 Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disord... UNIPROT 10330340 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) AND not specified ClinVar Detail
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) AND Autosomal recessive limb-girdle muscular dystrophy typ... ClinVar Detail
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) AND multiple conditions ClinVar 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
rs35889956 dbSNP
Genome
hg19
Position
chr15:42,680,003-42,680,003
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
65.49
Standard deviation of sample read depth (HGVD)
32.53
Number of reference allele (HGVD)
2413
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1425020712510354E-4
Gene Symbol (HGVD)
CAPN3
East Asian Chromosome Counts (ExAC)
8648
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)
121406
Allele Counts in All Race (ExAC)
376
Heterozygous Counts in All Race (ExAC)
358
Homozygous Counts in All Race (ExAC)
9
Allele Frequency in All Race (ExAC)
0.003097046274483963
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