chr10:121429633:T>C Detail (hg19) (BAG3)

Information

Genome

Assembly Position
hg19 chr10:121,429,633-121,429,633
hg38 chr10:119,670,121-119,670,121 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004281.3:c.451T>C NP_004272.2:p.Cys151Arg
Ensemble ENST00000369085.8:c.451T>C ENST00000369085.8:p.Cys151Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
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 603883 OMIM
HGNC 939 HGNC
Ensembl ENSG00000151929 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40865413 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2020-08-11 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2015-06-19 criteria provided, single submitter germline Detail
Benign 2017-04-27 criteria provided, single submitter dilated cardiomyopathy 1HH germline Detail
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts myofibrillar myopathy 6 germline Detail
Benign 2024-02-01 criteria provided, single submitter dilated cardiomyopathy 1HH,myofibrillar myopathy 6 germline Detail
Benign 2024-02-01 criteria provided, single submitter dilated cardiomyopathy 1HH,myofibrillar myopathy 6 germline Detail
Benign 2023-11-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.244 Cardiomyopathy, Dilated Our results show that rare mutations in BAG3 contribute to monogenic forms of th... GWASCAT 21459883 Detail
0.244 Cardiomyopathy, Dilated [Our results show that rare mutations in BAG3 contribute to monogenic forms of t... GAD 21459883 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND not specified ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND Cardiovascular phenotype ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND Dilated cardiomyopathy 1HH ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND Myofibrillar myopathy 6 ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND multiple conditions ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND multiple conditions ClinVar Detail
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) AND not provided ClinVar Detail
Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while com... DisGeNET Detail
[Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while co... 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
rs2234962 dbSNP
Genome
hg19
Position
chr10:121,429,633-121,429,633
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
120.21
Standard deviation of sample read depth (HGVD)
59.87
Number of reference allele (HGVD)
2406
Number of alternative allele (HGVD)
6
Allele Frequency (HGVD)
0.0024875621890547263
Gene Symbol (HGVD)
BAG3
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))
rs2234962
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8566
East Asian Allele Counts (ExAC)
10
East Asian Heterozygous Counts (ExAC)
10
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0011674060238150829
Chromosome Counts in All Race (ExAC)
119230
Allele Counts in All Race (ExAC)
21073
Heterozygous Counts in All Race (ExAC)
16643
Homozygous Counts in All Race (ExAC)
2215
Allele Frequency in All Race (ExAC)
0.17674243059632644
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