chr18:58039090:G>A Detail (hg19) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,039,090-58,039,090
hg38 chr18:60,371,857-60,371,857 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.493C>T NP_005903.2:p.Arg165Trp
Ensemble ENST00000299766.5:c.493C>T ENST00000299766.5:p.Arg165Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 tgv60220628 TogoVar
COSMIC COSM4420049 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-09-01 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2024-03-12 criteria provided, multiple submitters, no conflicts BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline unknown Detail
Pathogenic 2024-02-10 criteria provided, single submitter MC4R-related disorder germline Detail
Likely pathogenic 2018-09-28 criteria provided, single submitter Obesity due to melanocortin 4 receptor deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... BeFree 24780838 Detail
<0.001 obesity As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... BeFree 24780838 Detail
0.791 obesity As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... BeFree 24780838 Detail
<0.001 obesity As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... BeFree 24780838 Detail
0.791 obesity Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her ... UNIPROT 10199800 Detail
0.791 obesity This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R... UNIPROT 15486053 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) AND not provided ClinVar Detail
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) AND MC4R-related disorder ClinVar Detail
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) AND Obesity due to melanocortin 4 receptor deficiency ClinVar Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... DisGeNET Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... DisGeNET Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... DisGeNET Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... DisGeNET Detail
Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg... DisGeNET Detail
This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a populatio... 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
rs13447332 dbSNP
Genome
hg19
Position
chr18:58,039,090-58,039,090
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs13447332
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3153507756425097E-4
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4725138872863334E-5
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