chr3:10191569:C>G Detail (hg19) (VHL, LOC107303340)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,191,569-10,191,569 |
| hg38 | chr3:10,149,885-10,149,885 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.562C>G | NP_000542.1:p.Leu188Val |
| NM_198156.2:c.439C>G | NP_937799.1:p.Leu147Val | |
| Ensemble | ENST00000256474.3:c.562C>G | ENST00000256474.3:p.Leu188Val |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2024-02-22 | criteria provided, multiple submitters, no conflicts | Von Hippel-Lindau syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-04-23 | criteria provided, single submitter | Chuvash polycythemia |
germline
unknown
|
Detail |
|
Pathogenic
|
2003-02-15 | no assertion criteria provided | pheochromocytoma |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-12-26 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-08-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Likely pathogenic
|
criteria provided, single submitter | Au-Kline syndrome |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| adrenal gland pheochromocytoma | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 3 | 12000816 | Detail | |
| von Hippel-Lindau disease | B |
Predisposing
|
N/A | N/A | Rare Germline | 3 | 11850829 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.658 | Von Hippel-Lindau syndrome | NA | CLINVAR | Detail | |
| 0.416 | pheochromocytoma | NA | CLINVAR | Detail | |
| 0.560 | ERYTHROCYTOSIS, FAMILIAL, 2 | NA | CLINVAR | Detail | |
| 0.416 | pheochromocytoma | Almost one fourth of patients with apparently sporadic pheochromocytoma may be c... | UNIPROT | 12000816 | Detail |
| 0.658 | Von Hippel-Lindau syndrome | The group of susceptibility genes for pheochromocytoma that included the proto-o... | UNIPROT | 12000816 | Detail |
| 0.560 | ERYTHROCYTOSIS, FAMILIAL, 2 | Germ-line mutations in nonsyndromic pheochromocytoma. | UNIPROT | 12000816 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc... | CIViC Evidence | Detail |
| 36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6... | CIViC Evidence | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Von Hippel-Lindau syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Chuvash polycythemia | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Pheochromocytoma | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND not provided | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Au-Kline syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations... | DisGeNET | Detail |
| The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa... | DisGeNET | Detail |
| Germ-line mutations in nonsyndromic pheochromocytoma. | 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
- rs5030824 dbSNP
- Genome
- hg19
- Position
- chr3:10,191,569-10,191,569
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120982
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.653138483410755E-5
- Variant (CIViC) (CIViC Variant)
- L188V (c.562C>G)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1836
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