chr16:2120494:G>A Detail (hg19) (TSC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:2,120,494-2,120,494 |
| hg38 | chr16:2,070,493-2,070,493 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001114382.2:c.1754G>A | NP_001107854.1:p.Arg585His |
| NM_000548.4:c.1754G>A | NP_000539.2:p.Arg585His | |
| NM_001077183.2:c.1754G>A | NP_001070651.1:p.Arg585His |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| 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:<0.001 |
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 |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2023-08-15 | criteria provided, single submitter | Tuberous sclerosis syndrome |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-24 | criteria provided, conflicting interpretations | tuberous sclerosis 2 |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2022-02-07 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000548.5(TSC2):c.1754G>A (p.Arg585His) AND Tuberous sclerosis syndrome | ClinVar | Detail |
| NM_000548.5(TSC2):c.1754G>A (p.Arg585His) AND Tuberous sclerosis 2 | ClinVar | Detail |
| NM_000548.5(TSC2):c.1754G>A (p.Arg585His) AND Hereditary cancer-predisposing syndrome | 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
- rs397515063 dbSNP
- Genome
- hg19
- Position
- chr16:2,120,494-2,120,494
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs397515063
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0004
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.318034306907742E-4
- Chromosome Counts in All Race (ExAC)
- 120312
- 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)
- 2.4935168561739478E-5
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