chr20:57484420:C>G Detail (hg19) (GNAS)

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

Information

Genome

Assembly	Position
hg19	chr20:57,484,420-57,484,420
hg38	chr20:58,909,365-58,909,365 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_016592.3:c.*507C>G
	NM_080426.3:c.559C>G	NP_536351.1:p.Arg187Gly
	NM_001077488.3:c.604C>G	NP_001070956.1:p.Arg202Gly
	NM_001309840.1:c.*504C>G
	NM_001309861.1:c.*504C>G
	NM_001077490.2:c.2530C>G	NP_001070958.1:p.Arg844Gly
	NM_080425.3:c.2530C>G	NP_536350.2:p.Arg844Gly
	NM_000516.5:c.601C>G	NP_000507.1:p.Arg201Gly
	NM_001077489.3:c.556C>G	NP_001070957.1:p.Arg186Gly
Ensemble	ENST00000371075.7:c.*507C>G
	ENST00000482112.6:c.379C>G	ENST00000482112.6:p.Arg127Gly
	ENST00000371095.7:c.559C>G	ENST00000371095.7:p.Arg187Gly
	ENST00000480232.6:c.427C>G	ENST00000480232.6:p.Arg143Gly
	ENST00000464788.6:c.424C>G	ENST00000464788.6:p.Arg142Gly
	ENST00000354359.12:c.604C>G	ENST00000354359.12:p.Arg202Gly
	ENST00000480975.5:c.379C>G	ENST00000480975.5:p.Arg127Gly
	ENST00000313949.11:c.*504C>G
	ENST00000467321.6:c.424C>G	ENST00000467321.6:p.Arg142Gly
	ENST00000468895.6:c.601C>G	ENST00000468895.6:p.Arg201Gly
	ENST00000477931.5:c.424C>G	ENST00000477931.5:p.Arg142Gly
	ENST00000371102.8:c.2488C>G	ENST00000371102.8:p.Arg830Gly
	ENST00000485673.6:c.382C>G	ENST00000485673.6:p.Arg128Gly
	ENST00000371100.9:c.2530C>G	ENST00000371100.9:p.Arg844Gly
	ENST00000492907.6:c.382C>G	ENST00000492907.6:p.Arg128Gly
	ENST00000371085.8:c.601C>G	ENST00000371085.8:p.Arg201Gly
	ENST00000349036.9:c.2485C>G	ENST00000349036.9:p.Arg829Gly
	ENST00000488546.6:c.382C>G	ENST00000488546.6:p.Arg128Gly
	ENST00000604005.6:c.424C>G	ENST00000604005.6:p.Arg142Gly
	ENST00000481039.6:c.382C>G	ENST00000481039.6:p.Arg128Gly
	ENST00000467227.6:c.382C>G	ENST00000467227.6:p.Arg128Gly
	ENST00000478585.6:c.382C>G	ENST00000478585.6:p.Arg128Gly
	ENST00000472183.6:c.424C>G	ENST00000472183.6:p.Arg142Gly
	ENST00000469431.6:c.424C>G	ENST00000469431.6:p.Arg142Gly
	ENST00000476935.6:c.379C>G	ENST00000476935.6:p.Arg127Gly
	ENST00000470512.6:c.427C>G	ENST00000470512.6:p.Arg143Gly
	ENST00000488652.6:c.424C>G	ENST00000488652.6:p.Arg142Gly
	ENST00000419558.7:c.*459C>G
	ENST00000603546.2:c.424C>G	ENST00000603546.2:p.Arg142Gly
	ENST00000683015.1:c.*513C>G
	ENST00000682803.1:c.274C>G	ENST00000682803.1:p.Arg92Gly
	ENST00000676826.2:c.2533C>G	ENST00000676826.2:p.Arg845Gly
	ENST00000667293.2:c.424C>G	ENST00000667293.2:p.Arg142Gly
	ENST00000663479.2:c.427C>G	ENST00000663479.2:p.Arg143Gly
	ENST00000306090.12:c.505C>G	ENST00000306090.12:p.Arg169Gly
	ENST00000265620.11:c.556C>G	ENST00000265620.11:p.Arg186Gly
	ENST00000657090.1:c.424C>G	ENST00000657090.1:p.Arg142Gly
	ENST00000656419.1:c.130C>G	ENST00000656419.1:p.Arg44Gly
	ENST00000462499.6:c.382C>G	ENST00000462499.6:p.Arg128Gly
	ENST00000453292.7:c.*462C>G

Summary

MGeND

Clinical significance	not provided
Variant entry	1
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
Review star
Show details

Links

GNAS

Type	Database	ID	Link
Gene	MIM	139320	OMIM
	HGNC	4392	HGNC
	Ensembl	ENSG00000087460	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1757313	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-11-01	no assertion criteria provided	McCune-Albright syndrome	germline somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Sex cord-stromal tumor	NA	CLINVAR		Detail
0.371	McCune-Albright syndrome	NA	CLINVAR		Detail
0.243	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR		Detail
0.371	McCune-Albright syndrome	Activating mutations of the stimulatory G protein in the McCune-Albright syndrom...	UNIPROT	1944469	Detail
0.240	ACTH-independent macronodular adrenal hyperplasia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) AND McCune-Albright syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.	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: rs11554273 dbSNP
Genome: hg19
Position: chr20:57,484,420-57,484,420
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8652
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): 121390
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): 8.237910865804433E-6

Genome browser

chr20:57484420:C>G Detail (hg19) (GNAS)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript