chr10:43100585:G>A Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,596,033-43,596,033 View the variant detail on this assembly version. |
| hg38 | chr10:43,100,585-43,100,585 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.200G>A | NP_065681.1:p.Arg67His |
| NM_020975.4:c.200G>A | NP_066124.1:p.Arg67His | |
| Ensemble | ENST00000615310.5:c.200G>A | ENST00000615310.5:p.Arg67His |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.004 |
| ToMMo:0.003 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.011 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| 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 |
|---|---|---|---|---|---|
|
Likely benign
|
2017-04-12 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
Likely benign
|
2022-08-14 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2018-06-04 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
|
Likely benign
|
2018-06-04 | criteria provided, single submitter | multiple endocrine neoplasia |
germline
|
Detail |
|
Likely benign
|
2018-06-04 | criteria provided, single submitter | Renal hypodysplasia/aplasia 1 |
germline
|
Detail |
|
Likely benign
|
2018-06-04 | criteria provided, single submitter | pheochromocytoma |
germline
|
Detail |
|
Benign
Likely benign
|
2021-03-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Likely benign
|
2022-11-10 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 |
| 0.241 | Congenital central hypoventilation | Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in th... | UNIPROT | 14566559 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND not specified | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Renal hypodysplasia/aplasia 1 | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Pheochromocytoma | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia type 2A | ClinVar | 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 |
| Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CC... | 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
- rs192489011 dbSNP
- Genome
- hg38
- Position
- chr10:43,100,585-43,100,585
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 116.34
- Standard deviation of sample read depth (HGVD)
- 57.63
- Number of reference allele (HGVD)
- 2408
- Number of alternative allele (HGVD)
- 10
- Allele Frequency (HGVD)
- 0.0041356492969396195
- 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))
- rs192489011
- 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)
- 8598
- East Asian Allele Counts (ExAC)
- 93
- East Asian Heterozygous Counts (ExAC)
- 93
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.010816468946266573
- Chromosome Counts in All Race (ExAC)
- 119866
- Allele Counts in All Race (ExAC)
- 123
- Heterozygous Counts in All Race (ExAC)
- 123
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0010261458628802163
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