chr2:179430537:G>A Detail (hg19) (TTN, TTN-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:179,430,537-179,430,537 |
| hg38 | chr2:178,565,810-178,565,810 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003319.4:c.53127C>T | NP_003310.4:p.Ala17709= |
| NM_133432.3:c.53127C>T | NP_597676.3:p.Ala17709= | |
| NM_133437.4:c.53127C>T | NP_597681.4:p.Ala17709= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.022 |
| ToMMo:0.021 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.015 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
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
|
2021-05-23 | criteria provided, multiple submitters, no conflicts | not specified |
germline
unknown
|
Detail |
|
Benign
|
2024-01-26 | criteria provided, single submitter | dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J |
germline
|
Detail |
|
Benign
|
2024-01-26 | criteria provided, single submitter | dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J |
germline
|
Detail |
|
Benign
|
2016-07-19 | criteria provided, single submitter | cardiomyopathy |
germline
|
Detail |
|
Benign
|
2017-04-27 | criteria provided, single submitter | tibial muscular dystrophy |
germline
|
Detail |
Uncertain significance
|
2017-04-27 | criteria provided, single submitter | Early-onset myopathy with fatal cardiomyopathy |
germline
|
Detail |
|
Benign
|
2017-04-27 | criteria provided, single submitter | dilated cardiomyopathy 1G |
germline
|
Detail |
Likely benign
|
2017-04-27 | criteria provided, single submitter | autosomal recessive limb-girdle muscular dystrophy type 2J |
germline
|
Detail |
|
Benign
|
2017-04-27 | criteria provided, single submitter | Myopathy, myofibrillar, 9, with early respiratory failure |
germline
|
Detail |
|
Benign
|
2023-09-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2018-03-01 | criteria provided, single submitter |
germline
|
Detail | |
|
Benign
|
2019-10-22 | criteria provided, single submitter | TTN-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND not specified | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND multiple conditions | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND multiple conditions | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Cardiomyopathy | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Tibial muscular dystrophy | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Early-onset myopathy with fatal cardiomyopathy | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Dilated cardiomyopathy 1G | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Autosomal recessive limb-girdle muscular dystrophy ... | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Myopathy, myofibrillar, 9, with early respiratory f... | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND not provided | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND TTN-related disorder | 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
- rs55892928 dbSNP
- Genome
- hg19
- Position
- chr2:179,430,537-179,430,537
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 192.36
- Standard deviation of sample read depth (HGVD)
- 92.37
- Number of reference allele (HGVD)
- 2366
- Number of alternative allele (HGVD)
- 54
- Allele Frequency (HGVD)
- 0.02231404958677686
- 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))
- rs55892928
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0209
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 350
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8608
- East Asian Allele Counts (ExAC)
- 129
- East Asian Heterozygous Counts (ExAC)
- 129
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.014986059479553903
- Chromosome Counts in All Race (ExAC)
- 120740
- Allele Counts in All Race (ExAC)
- 259
- Heterozygous Counts in All Race (ExAC)
- 259
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.002145105184694385
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