chr3:8787313:C>G Detail (hg19) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,313-8,787,313
hg38 chr3:8,745,627-8,745,627 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.216C>G NP_001225.1:p.Cys72Trp
NM_033337.2:c.216C>G NP_203123.1:p.Cys72Trp
Ensemble ENST00000343849.3:c.216C>G ENST00000343849.3:p.Cys72Trp
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 601253 OMIM
HGNC 1529 HGNC
Ensembl ENSG00000182533 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
Pathogenic 2005-01-01 no assertion criteria provided rippling muscle disease 2 germline Detail
Benign Likely benign 2022-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign Likely benign 2020-07-13 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Likely benign 2013-06-24 criteria provided, single submitter limb-girdle muscular dystrophy unknown Detail
Likely benign 2018-09-07 criteria provided, single submitter germline Detail
Uncertain significance 2016-03-16 no assertion criteria provided long QT syndrome 9,Distal myopathy, Tateyama type,rippling muscle disease 2,hypertrophic cardiomyopathy 1 paternal Detail
Uncertain significance 2016-03-16 no assertion criteria provided long QT syndrome 9,Distal myopathy, Tateyama type,rippling muscle disease 2,hypertrophic cardiomyopathy 1 paternal Detail
Uncertain significance 2016-03-16 no assertion criteria provided long QT syndrome 9,Distal myopathy, Tateyama type,rippling muscle disease 2,hypertrophic cardiomyopathy 1 paternal Detail
Uncertain significance 2016-03-16 no assertion criteria provided long QT syndrome 9,Distal myopathy, Tateyama type,rippling muscle disease 2,hypertrophic cardiomyopathy 1 paternal Detail
Likely benign 2019-11-27 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Benign 2023-08-22 criteria provided, single submitter long QT syndrome 1 germline Detail
Likely benign 2024-01-29 criteria provided, single submitter long QT syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-07-07 criteria provided, conflicting interpretations Caveolinopathy germline Detail
Likely benign 2019-11-05 criteria provided, single submitter CAV3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.124 sudden infant death syndrome In silico prediction tools were applied to variants present in ESP and 6 SIDS-as... BeFree 23465283 Detail
0.560 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C NA CLINVAR Detail
0.251 Muscular Dystrophies, Limb-Girdle NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Rippling muscle disease 2 ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND not provided ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND not specified ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Limb-girdle muscular dystrophy ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Cardiovascular phenotype ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND multiple conditions ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND multiple conditions ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND multiple conditions ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND multiple conditions ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Cardiomyopathy ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Long QT syndrome 1 ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Long QT syndrome ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Caveolinopathy ClinVar Detail
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND CAV3-related disorder ClinVar Detail
In silico prediction tools were applied to variants present in ESP and 6 SIDS-associated variants (C... DisGeNET 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
rs116840776 dbSNP
Genome
hg19
Position
chr3:8,787,313-8,787,313
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8638
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)
120922
Allele Counts in All Race (ExAC)
136
Heterozygous Counts in All Race (ExAC)
136
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0011246919501827625
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