chr18:60371599:T>G Detail (hg38) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,038,832-58,038,832 View the variant detail on this assembly version.
hg38 chr18:60,371,599-60,371,599

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.751A>C NP_005903.2:p.Ile251Leu
Ensemble ENST00000299766.5:c.751A>C ENST00000299766.5:p.Ile251Leu
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 155541 OMIM
HGNC 6932 HGNC
Ensembl ENSG00000166603 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv403190880 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-03-06 criteria provided, single submitter obesity germline Detail
Benign Likely benign 2024-01-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-01-25 criteria provided, single submitter Monogenic diabetes unknown Detail
Likely benign 2017-05-12 criteria provided, single submitter not specified germline Detail
Benign 2021-08-29 criteria provided, single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 unknown Detail
Benign 2019-07-08 criteria provided, single submitter MC4R-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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 In the current study, we compared the eating behavior of 43 obese probands with ... BeFree 15037865 Detail
0.002 Diabetes However, carriers of MC4R (I251L), a rare variant associated with increased weig... BeFree 23159449 Detail
0.004 diabetes mellitus However, carriers of MC4R (I251L), a rare variant associated with increased weig... BeFree 23159449 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND Obesity ClinVar Detail
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND not provided ClinVar Detail
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND Monogenic diabetes ClinVar Detail
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND not specified ClinVar Detail
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) AND MC4R-related disorder ClinVar Detail
A low frequency of genetic variation in the coding region of MC4R was found in Chilean obese childre... DisGeNET Detail
In the current study, we compared the eating behavior of 43 obese probands with functionally relevan... DisGeNET Detail
However, carriers of MC4R (I251L), a rare variant associated with increased weight loss after RYGB a... DisGeNET Detail
However, carriers of MC4R (I251L), a rare variant associated with increased weight loss after RYGB a... 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
rs52820871 dbSNP
Genome
hg38
Position
chr18:60,371,599-60,371,599
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8648
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)
121374
Allele Counts in All Race (ExAC)
830
Heterozygous Counts in All Race (ExAC)
824
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
0.006838367360390199
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