chr18:60371970:G>A Detail (hg38) (MC4R)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:58,039,203-58,039,203 View the variant detail on this assembly version.
hg38	chr18:60,371,970-60,371,970

HGVS

MC4R

Type	Transcript	Protein
RefSeq	NM_005912.2:c.380C>T	NP_005903.2:p.Ser127Leu
Ensemble	ENST00000299766.5:c.380C>T	ENST00000299766.5:p.Ser127Leu

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	Conflicting classifications of pathogenicity
Review star
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Links

MC4R

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2020-01-22	criteria provided, conflicting interpretations	obesity	germline	Detail
Conflicting interpretations of pathogenicity	2023-07-29	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely pathogenic	2023-02-09	criteria provided, multiple submitters, no conflicts	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	germline unknown	Detail
Likely pathogenic	2022-03-03	criteria provided, single submitter	Obesity due to melanocortin 4 receptor deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.791	obesity	NA	CLINVAR		Detail
0.791	obesity	Identification and characterization of melanocortin-4 receptor gene mutations in...	UNIPROT	14764818	Detail
0.019	Obesity, Morbid	Overall, this study suggest that S127L may be the most frequent functional MC4R ...	BeFree	24385306	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) AND Obesity	ClinVar	Detail
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) AND not provided	ClinVar	Detail
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	ClinVar	Detail
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) AND Obesity due to melanocortin 4 receptor deficiency	ClinVar	Detail
NA	DisGeNET	Detail
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finn...	DisGeNET	Detail
Overall, this study suggest that S127L may be the most frequent functional MC4R mutation leading to ...	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: rs13447331 dbSNP
Genome: hg38
Position: chr18:60,371,970-60,371,970
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
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): 121384
Allele Counts in All Race (ExAC): 20
Heterozygous Counts in All Race (ExAC): 20
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6476636129967705E-4

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