chr11:22239808:A>G Detail (hg19) (ANO5)

Information

Genome

Assembly Position
hg19 chr11:22,239,808-22,239,808
hg38 chr11:22,218,262-22,218,262 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001142649.1:c.155A>G NP_001136121.1:p.Asn52Ser
NM_213599.2:c.155A>G NP_998764.1:p.Asn52Ser
Ensemble ENST00000682266.1:c.-270-2835A>G
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 Conflicting classifications of pathogenicity
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-04-18 criteria provided, conflicting interpretations not specified germline unknown Detail
Conflicting interpretations of pathogenicity 2023-12-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2019-05-28 criteria provided, single submitter gnathodiaphyseal dysplasia unknown Detail
Benign 2024-01-26 criteria provided, single submitter gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L germline Detail
Benign 2024-01-26 criteria provided, single submitter gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L germline Detail
Uncertain significance 2017-08-24 criteria provided, single submitter ANO5-Related Muscle Diseases 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
Annotation

Annotations

DescrptionSourceLinks
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND not specified ClinVar Detail
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND not provided ClinVar Detail
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND Gnathodiaphyseal dysplasia ClinVar Detail
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) AND ANO5-Related Muscle Diseases ClinVar Detail
NA DisGeNET 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
rs143777403 dbSNP
Genome
hg19
Position
chr11:22,239,808-22,239,808
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
120912
Allele Counts in All Race (ExAC)
230
Heterozygous Counts in All Race (ExAC)
230
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0019022098716421861
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