chr10:43601830:G>A Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,601,830-43,601,830 |
hg38 | chr10:43,106,382-43,106,382 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020975.4:c.874G>A | NP_066124.1:p.Val292Met |
NM_020630.4:c.874G>A | NP_065681.1:p.Val292Met | |
Ensemble | ENST00000713926.1:c.745G>A | ENST00000713926.1:p.Val249Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.002 |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.006 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-11-03 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2022-08-14 | criteria provided, single submitter | not specified |
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Detail |
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2018-06-04 | criteria provided, single submitter | pheochromocytoma |
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Detail |
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2018-06-04 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
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Detail |
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2018-06-04 | criteria provided, single submitter | Renal hypodysplasia/aplasia 1 |
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Detail |
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2018-06-04 | criteria provided, single submitter | multiple endocrine neoplasia |
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Detail |
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2021-12-02 | criteria provided, conflicting interpretations | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-11-21 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
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Detail |
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2024-02-01 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
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Detail |
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2024-01-23 | criteria provided, single submitter | Hereditary cancer |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
0.362 | familial medullary thyroid carcinoma | The results confirmed the successful clinical utility of whole exome sequencing,... | BeFree | 21655256 | Detail |
0.522 | familial medullary thyroid carcinoma | The results confirmed the successful clinical utility of whole exome sequencing,... | BeFree | 21655256 | Detail |
0.605 | pheochromocytoma | A novel de novo germ-line V292M mutation in the extracellular region of RET in a... | BeFree | 20039896 | Detail |
0.320 | Medullary carcinoma of thyroid | A novel de novo germ-line V292M mutation in the extracellular region of RET in a... | BeFree | 20039896 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.874G>A (p.Val292Met) AND not provided | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND not specified | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Pheochromocytoma | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Renal hypodysplasia/aplasia 1 | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
NM_020975.6(RET):c.874G>A (p.Val292Met) AND Hereditary cancer | ClinVar | Detail |
NA | DisGeNET | Detail |
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... | DisGeNET | Detail |
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... | DisGeNET | Detail |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeoc... | DisGeNET | Detail |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeoc... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs34682185 dbSNP
- Genome
- hg19
- Position
- chr10:43,601,830-43,601,830
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 970
- Mean of sample read depth (HGVD)
- 19.14
- Standard deviation of sample read depth (HGVD)
- 10.04
- Number of reference allele (HGVD)
- 1937
- Number of alternative allele (HGVD)
- 3
- Allele Frequency (HGVD)
- 0.0015463917525773195
- Gene Symbol (HGVD)
- RET
- 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))
- rs34682185
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0009
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8336
- East Asian Allele Counts (ExAC)
- 52
- East Asian Heterozygous Counts (ExAC)
- 52
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.006238003838771593
- Chromosome Counts in All Race (ExAC)
- 113512
- Allele Counts in All Race (ExAC)
- 64
- Heterozygous Counts in All Race (ExAC)
- 64
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.638170413700754E-4
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