chr20:58909365:C>G Detail (hg38) (GNAS)

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

Genome

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

HGVS

GNAS

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

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	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

[No Data.]

MGeND

[No Data.]

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: hg38
Position: chr20:58,909,365-58,909,365
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

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