chr18:58039276:C>T Detail (hg19) (MC4R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:58,039,276-58,039,276 |
| hg38 | chr18:60,372,043-60,372,043 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005912.2:c.307G>A | NP_005903.2:p.Val103Ile |
| Ensemble | ENST00000299766.5:c.307G>A | ENST00000299766.5:p.Val103Ile |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.012 |
| ToMMo:0.008 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.024 |
Prediction
ClinVar
| Clinical Significance |
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 |
|---|---|---|---|---|---|
|
Benign
|
2018-03-06 | criteria provided, single submitter | obesity |
germline
|
Detail |
|
Benign
|
2019-01-18 | criteria provided, single submitter | Monogenic diabetes |
unknown
|
Detail |
|
Benign
|
1999-04-01 | no assertion criteria provided | MELANOCORTIN 4 RECEPTOR POLYMORPHISM |
germline
|
Detail |
protective
|
1999-04-01 | no assertion criteria provided | OBESITY, RESISTANCE TO |
germline
|
Detail |
|
Benign
|
no assertion criteria provided | not specified |
germline
|
Detail | |
Pathogenic
|
2020-05-01 | no assertion criteria provided | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
unknown
|
Detail |
|
Benign
|
2024-01-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2021-11-08 | criteria provided, single submitter | MC4R-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.791 | obesity | Our study confirms previous findings of a meta-analysis that the relatively infr... | BeFree | 15805150 | Detail |
| 0.069 | obesity | Among the single-nucleotide polymorphisms (SNPs) previously reported to be assoc... | BeFree | 24518831 | Detail |
| 0.004 | Cachexia | Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cach... | BeFree | 18377640 | Detail |
| 0.791 | obesity | A low frequency of genetic variation in the coding region of MC4R was found in C... | BeFree | 20406574 | Detail |
| 0.791 | obesity | The 103Ile allele of the Val103Ile single nucleotide polymorphism (SNP) of the m... | BeFree | 20054160 | Detail |
| 0.006 | Metabolic syndrome X | Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA... | BeFree | 18239646 | Detail |
| 0.791 | obesity | Prevalence of melanocortin receptor 4 (MC4R) V103I gene variant and its associat... | BeFree | 22822657 | Detail |
| 0.791 | obesity | In humans, MC4R mutations that lead to an impaired receptor function are associa... | BeFree | 18377640 | Detail |
| 0.019 | Obesity, Morbid | The purpose of the study was to investigate the association between the MC4R V10... | BeFree | 18779298 | Detail |
| 0.791 | obesity | Association of the MC4R V103I polymorphism with obesity: a Chinese case-control ... | BeFree | 19696756 | Detail |
| 0.791 | obesity | Association of the melanocortin-4 receptor V103I polymorphism with dietary intak... | BeFree | 18779298 | Detail |
| 0.791 | obesity | The objective of this study was to examine the Val103Ile polymorphism of MC4R in... | BeFree | 19283510 | Detail |
| 0.002 | Diabetes | These results suggest that mutations including V103I in the MC4R gene are not a ... | BeFree | 11246450 | Detail |
| 0.791 | obesity | It further establishes that the association of the MC4R V103I with obesity and r... | BeFree | 18239646 | Detail |
| 0.791 | obesity | The influence of rs2229616 (MC4R) on BMI and obesity has been confirmed repeated... | BeFree | 24518831 | Detail |
| 0.004 | diabetes mellitus | These results suggest that mutations including V103I in the MC4R gene are not a ... | BeFree | 11246450 | Detail |
| 0.003 | atherosclerosis | To investigate the effects of variation in the leptin [LEP (19A>G)] and melan... | BeFree | 17587397 | Detail |
| 0.003 | arteriosclerosis | To investigate the effects of variation in the leptin [LEP (19A>G)] and melan... | BeFree | 17587397 | Detail |
| <0.001 | Overweight and obesity | Val103Ile polymorphism of melanocortin-4 receptor is unlikely to be a major caus... | BeFree | 19283510 | Detail |
| <0.001 | arteriosclerosis | To investigate the effects of variation in the leptin [LEP (19A>G)] and melan... | BeFree | 17587397 | Detail |
| 0.791 | obesity | In the current study, we compared the eating behavior of 43 obese probands with ... | BeFree | 15037865 | Detail |
| 0.791 | obesity | The V103I polymorphism of the MC4R gene and obesity: population based studies an... | BeFree | 17356525 | Detail |
| <0.001 | atherosclerosis | To investigate the effects of variation in the leptin [LEP (19A>G)] and melan... | BeFree | 17587397 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND Obesity | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND Monogenic diabetes | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND MELANOCORTIN 4 RECEPTOR POLYMORPHISM | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND OBESITY, RESISTANCE TO | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND not specified | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND not provided | ClinVar | Detail |
| NM_005912.3(MC4R):c.307G>A (p.Val103Ile) AND MC4R-related disorder | ClinVar | Detail |
| Our study confirms previous findings of a meta-analysis that the relatively infrequent G/A genotype ... | DisGeNET | Detail |
| Among the single-nucleotide polymorphisms (SNPs) previously reported to be associated with body mass... | DisGeNET | Detail |
| Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia. | DisGeNET | Detail |
| A low frequency of genetic variation in the coding region of MC4R was found in Chilean obese childre... | DisGeNET | Detail |
| The 103Ile allele of the Val103Ile single nucleotide polymorphism (SNP) of the melanocortin-4 recept... | DisGeNET | Detail |
| Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA Study. | DisGeNET | Detail |
| Prevalence of melanocortin receptor 4 (MC4R) V103I gene variant and its association with obesity amo... | DisGeNET | Detail |
| In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in... | DisGeNET | Detail |
| The purpose of the study was to investigate the association between the MC4R V103I polymorphism and ... | DisGeNET | Detail |
| Association of the MC4R V103I polymorphism with obesity: a Chinese case-control study and meta-analy... | DisGeNET | Detail |
| Association of the melanocortin-4 receptor V103I polymorphism with dietary intake in severely obese ... | DisGeNET | Detail |
| The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Voj... | DisGeNET | Detail |
| These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesi... | DisGeNET | Detail |
| It further establishes that the association of the MC4R V103I with obesity and related phenotypes is... | DisGeNET | Detail |
| The influence of rs2229616 (MC4R) on BMI and obesity has been confirmed repeatedly and insight into ... | DisGeNET | Detail |
| These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesi... | DisGeNET | Detail |
| To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [... | DisGeNET | Detail |
| To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [... | DisGeNET | Detail |
| Val103Ile polymorphism of melanocortin-4 receptor is unlikely to be a major cause of overweight and ... | DisGeNET | Detail |
| To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [... | DisGeNET | Detail |
| In the current study, we compared the eating behavior of 43 obese probands with functionally relevan... | DisGeNET | Detail |
| The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 2... | DisGeNET | Detail |
| To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [... | 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
- rs2229616 dbSNP
- Genome
- hg19
- Position
- chr18:58,039,276-58,039,276
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 192.13
- Standard deviation of sample read depth (HGVD)
- 81.68
- Number of reference allele (HGVD)
- 2390
- Number of alternative allele (HGVD)
- 30
- Allele Frequency (HGVD)
- 0.012396694214876033
- Gene Symbol (HGVD)
- MC4R
- 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))
- rs2229616
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0078
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 131
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 204
- East Asian Heterozygous Counts (ExAC)
- 200
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.02358926919518964
- Chromosome Counts in All Race (ExAC)
- 121398
- Allele Counts in All Race (ExAC)
- 2116
- Heterozygous Counts in All Race (ExAC)
- 2062
- Homozygous Counts in All Race (ExAC)
- 27
- Allele Frequency in All Race (ExAC)
- 0.017430270679912353
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