chr2:178539450:G>C Detail (hg38) (TTN, TTN-AS1)

Information

Genome

Assembly Position
hg19 chr2:179,404,177-179,404,177 View the variant detail on this assembly version.
hg38 chr2:178,539,450-178,539,450

HGVS

Type Transcript Protein
RefSeq NM_001256850.1:c.90911C>G NP_001243779.1:p.Ala30304Gly
NM_133378.4:c.90911C>G NP_596869.4:p.Ala30304Gly
NM_003319.4:c.71420C>G NP_003310.4:p.Ala23807Gly
Summary

MGeND

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

Frequency

JP HGVD:0.003
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv9649059 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
Uncertain significance 2017-12-29 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2J,dilated cardiomyopathy 1G germline Detail
Uncertain significance 2017-12-29 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2J,dilated cardiomyopathy 1G germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly) AND multiple conditions ClinVar Detail
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly) 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
rs150288160 dbSNP
Genome
hg38
Position
chr2:178,539,450-178,539,450
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
165.21
Standard deviation of sample read depth (HGVD)
77.13
Number of reference allele (HGVD)
2413
Number of alternative allele (HGVD)
7
Allele Frequency (HGVD)
0.002892561983471074
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))
rs150288160
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0032
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
54
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8604
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.486750348675035E-4
Chromosome Counts in All Race (ExAC)
120662
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.486283999933699E-5
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