chr2:178548383:G>A Detail (hg38) (TTN, TTN-AS1)

Information

Genome

Assembly Position
hg19 chr2:179,413,110-179,413,110 View the variant detail on this assembly version.
hg38 chr2:178,548,383-178,548,383

HGVS

Type Transcript Protein
RefSeq NM_001256850.1:c.85539C>T NP_001243779.1:p.Ala28513=
NM_133378.4:c.85539C>T NP_596869.4:p.Ala28513=
NM_003319.4:c.66048C>T NP_003310.4:p.Ala22016=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.414
ToMMo:0.441
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.434

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 188840 OMIM
HGNC 12403 HGNC
Ensembl ENSG00000155657 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9650489 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-08-19 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2013-01-16 criteria provided, single submitter germline Detail
Benign 2021-09-10 criteria provided, multiple submitters, no conflicts Early-onset myopathy with fatal cardiomyopathy germline Detail
Benign 2021-09-10 criteria provided, multiple submitters, no conflicts tibial muscular dystrophy germline Detail
Benign 2021-09-10 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
Benign 2018-01-13 criteria provided, single submitter dilated cardiomyopathy 1G germline Detail
Benign 2021-09-10 criteria provided, multiple submitters, no conflicts Myopathy, myofibrillar, 9, with early respiratory failure germline Detail
Benign 2024-02-01 criteria provided, single submitter dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
Benign 2024-02-01 criteria provided, single submitter dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND not specified ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Cardiovascular phenotype ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Early-onset myopathy with fatal cardiomyopathy ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Tibial muscular dystrophy ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Autosomal recessive limb-girdle muscular dystrophy ... ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Dilated cardiomyopathy 1G ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND Myopathy, myofibrillar, 9, with early respiratory f... ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND multiple conditions ClinVar Detail
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) AND multiple conditions ClinVar 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
rs3731748 dbSNP
Genome
hg38
Position
chr2:178,548,383-178,548,383
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
206.72
Standard deviation of sample read depth (HGVD)
94.94
Number of reference allele (HGVD)
1417
Number of alternative allele (HGVD)
1002
Allele Frequency (HGVD)
0.4142207523770153
Gene Symbol (HGVD)
TTN
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))
rs3731748
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4408
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7388
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8578
East Asian Allele Counts (ExAC)
3727
East Asian Heterozygous Counts (ExAC)
2139
East Asian Homozygous Counts (ExAC)
794
East Asian Allele Frequency (ExAC)
0.4344835626020051
Chromosome Counts in All Race (ExAC)
120592
Allele Counts in All Race (ExAC)
22194
Heterozygous Counts in All Race (ExAC)
17198
Homozygous Counts in All Race (ExAC)
2498
Allele Frequency in All Race (ExAC)
0.18404205917473795
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