chr1:201328765:G>A Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,328,765-201,328,765
hg38 chr1:201,359,637-201,359,637 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.807C>T NP_001001430.1:p.Asn269=
NM_001001431.2:c.795C>T NP_001001431.1:p.Asn265=
NM_001276346.1:c.708C>T NP_001263275.1:p.Asn236=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
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 191045 OMIM
HGNC 11949 HGNC
Ensembl ENSG00000118194 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4418610 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-06-13 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2015-01-14 criteria provided, single submitter not provided germline Detail
Likely benign 2024-01-11 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2024-01-20 criteria provided, single submitter dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline Detail
Likely benign 2024-01-20 criteria provided, single submitter dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline Detail
Likely benign 2024-01-20 criteria provided, single submitter dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline Detail
Likely benign 2018-07-31 criteria provided, single submitter germline Detail
Likely benign 2020-04-01 criteria provided, single submitter TNNT2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND not specified ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) AND TNNT2-related disorder 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
rs376923877 dbSNP
Genome
hg19
Position
chr1:201,328,765-201,328,765
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
108.09
Standard deviation of sample read depth (HGVD)
49.11
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
TNNT2
East Asian Chromosome Counts (ExAC)
4186
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3889154323936931E-4
Chromosome Counts in All Race (ExAC)
57780
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.5576323987538941E-4
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