chr1:201365244:A>T Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,372-201,334,372 View the variant detail on this assembly version.
hg38 chr1:201,365,244-201,365,244

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.328T>A NP_001001430.1:p.Phe110Ile
NM_001276346.1:c.291+366T>A
NM_001001431.2:c.325T>A NP_001001431.1:p.Phe109Ile
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance 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 tgv4419012 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-11 criteria provided, single submitter hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2013-01-30 no assertion criteria provided not provided germline Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D germline Detail
Pathogenic 2023-05-15 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
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.358T>A (p.Phe120Ile) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) AND Cardiomyopathy, familial restrictive, 3 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
rs121964858 dbSNP
Genome
hg38
Position
chr1:201,365,244-201,365,244
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
85.40
Standard deviation of sample read depth (HGVD)
43.47
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
TNNT2
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))
rs121964858
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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