chr10:43114598:G>C Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,610,046-43,610,046 View the variant detail on this assembly version. |
| hg38 | chr10:43,114,598-43,114,598 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.1998G>C | NP_065681.1:p.Lys666Asn |
| NM_020975.4:c.1998G>C | NP_066124.1:p.Lys666Asn | |
| Ensemble | ENST00000340058.6:c.1998G>C | ENST00000340058.6:p.Lys666Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-03-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-16 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Pathogenic
|
2020-09-23 | criteria provided, single submitter | familial medullary thyroid carcinoma |
inherited
|
Detail |
not provided
|
no assertion provided | multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A |
maternal
|
Detail | |
|
not provided
|
no assertion provided | multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A |
maternal
|
Detail | |
|
not provided
|
no assertion provided | multiple endocrine neoplasia type 2B,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A |
maternal
|
Detail | |
|
Likely pathogenic
|
2022-11-10 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
germline
|
Detail |
|
Likely pathogenic
|
2022-11-10 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
germline
|
Detail |
|
Likely pathogenic
|
2022-11-10 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
germline
|
Detail |
|
Likely pathogenic
|
2022-11-10 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,multiple endocrine neoplasia type 2A,familial medullary thyroid carcinoma |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-05 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
unknown
germline
|
Detail |
|
Pathogenic
|
2023-03-12 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2024-01-19 | criteria provided, single submitter | RET-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.320 | Medullary carcinoma of thyroid | NA | CLINVAR | Detail | |
| 0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND Familial medullary thyroid carcinoma | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.1998G>C (p.Lys666Asn) AND RET-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs146646971 dbSNP
- Genome
- hg38
- Position
- chr10:43,114,598-43,114,598
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121326
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.242256400112095E-6
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