chr11:22236206:G>T Detail (hg38) (ANO5)

Information

Genome

Assembly Position
hg19 chr11:22,257,752-22,257,752 View the variant detail on this assembly version.
hg38 chr11:22,236,206-22,236,206

HGVS

Type Transcript Protein
RefSeq NM_001142649.1:c.692G>T NP_001136121.1:p.Gly231Val
NM_213599.2:c.692G>T NP_998764.1:p.Gly231Val
Ensemble ENST00000324559.9:c.692G>T ENST00000324559.9:p.Gly231Val
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 608662 OMIM
HGNC 27337 HGNC
Ensembl ENSG00000171714 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv371841781 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-12-12 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2L germline paternal unknown Detail
Pathogenic 2023-12-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-04 criteria provided, multiple submitters, no conflicts ANO5-related disorder germline Detail
Likely pathogenic 2024-01-25 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia germline Detail
Likely pathogenic 2024-01-25 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Miyoshi muscular dystrophy 3,gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Miyoshi muscular dystrophy 3,gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Miyoshi muscular dystrophy 3,gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L unknown Detail
Pathogenic 2018-08-30 criteria provided, single submitter Hereditary fructosuria germline Detail
Likely pathogenic 2023-03-30 criteria provided, single submitter Miyoshi muscular dystrophy 3 germline Detail
Pathogenic 2024-02-07 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Miyoshi muscular dystrophy 3 NA CLINVAR Detail
0.480 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) NA CLINVAR Detail
0.480 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) Recessive mutations in the putative calcium-activated chloride channel Anoctamin... UNIPROT 20096397 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND Autosomal recessive limb-girdle muscular dystrophy type... ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND not provided ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND ANO5-related disorder ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND Hereditary fructosuria ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND Miyoshi muscular dystrophy 3 ClinVar Detail
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) AND Autosomal recessive limb-girdle muscular dystrophy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LG... 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
rs137854523 dbSNP
Genome
hg38
Position
chr11:22,236,206-22,236,206
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8522
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)
120882
Allele Counts in All Race (ExAC)
127
Heterozygous Counts in All Race (ExAC)
125
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0010506113399844476
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