chr1:201328750:C>T Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,328,750-201,328,750
hg38 chr1:201,359,622-201,359,622 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.821+1G>A
NM_001276347.1:c.821+1G>A
NM_001001431.2:c.809+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv4418604 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-12-22 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic 2020-11-05 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2020-11-05 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2020-11-05 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2020-09-24 criteria provided, single submitter cardiomyopathy germline Detail
Likely pathogenic 2018-11-23 criteria provided, single submitter germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter dilated cardiomyopathy 1D germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3 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.851+1G>A AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.851+1G>A AND Cardiomyopathy, familial restrictive, 3 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs111377893 dbSNP
Genome
hg19
Position
chr1:201,328,750-201,328,750
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs111377893
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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