chr15:42676690:G>A Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,676,690-42,676,690
hg38 chr15:42,384,492-42,384,492 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000070.2:c.319G>A NP_000061.1:p.Glu107Lys
NM_173087.1:c.319G>A NP_775110.1:p.Glu107Lys
NM_024344.1:c.319G>A NP_077320.1:p.Glu107Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv52709106 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2017-03-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline Detail
Benign 2022-04-18 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4,autosomal recessive limb-girdle muscular dystrophy type 2A unknown Detail
Benign 2022-04-18 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
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) AND not specified ClinVar Detail
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) AND Autosomal recessive limb-girdle muscular dystrophy typ... ClinVar Detail
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) AND multiple conditions ClinVar Detail
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) AND multiple conditions ClinVar Detail
NA 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
rs1801505 dbSNP
Genome
hg19
Position
chr15:42,676,690-42,676,690
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801505
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0009
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6221400508435407E-4
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
1266
Heterozygous Counts in All Race (ExAC)
1236
Homozygous Counts in All Race (ExAC)
15
Allele Frequency in All Race (ExAC)
0.010427820700789087
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