chr20:57484420:C>A Detail (hg19) (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
hg38	chr20:58,909,365-58,909,365 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001309840.1:c.*504C>A
	NM_001309861.1:c.*504C>A
	NM_001077490.2:c.2530C>A	NP_001070958.1:p.Arg844Ser
	NM_080425.3:c.2530C>A	NP_536350.2:p.Arg844Ser
	NM_080426.3:c.559C>A	NP_536351.1:p.Arg187Ser
	NM_001077488.3:c.604C>A	NP_001070956.1:p.Arg202Ser
	NM_001077489.3:c.556C>A	NP_001070957.1:p.Arg186Ser
	NM_000516.5:c.601C>A	NP_000507.1:p.Arg201Ser
	NM_016592.3:c.*507C>A
Ensemble	ENST00000480975.5:c.379C>A	ENST00000480975.5:p.Arg127Ser
	ENST00000313949.11:c.*504C>A
	ENST00000488546.6:c.382C>A	ENST00000488546.6:p.Arg128Ser
	ENST00000604005.6:c.424C>A	ENST00000604005.6:p.Arg142Ser
	ENST00000467227.6:c.382C>A	ENST00000467227.6:p.Arg128Ser
	ENST00000371100.9:c.2530C>A	ENST00000371100.9:p.Arg844Ser
	ENST00000468895.6:c.601C>A	ENST00000468895.6:p.Arg201Ser
	ENST00000467321.6:c.424C>A	ENST00000467321.6:p.Arg142Ser
	ENST00000371102.8:c.2488C>A	ENST00000371102.8:p.Arg830Ser
	ENST00000306090.12:c.505C>A	ENST00000306090.12:p.Arg169Ser
	ENST00000481039.6:c.382C>A	ENST00000481039.6:p.Arg128Ser
	ENST00000478585.6:c.382C>A	ENST00000478585.6:p.Arg128Ser
	ENST00000472183.6:c.424C>A	ENST00000472183.6:p.Arg142Ser
	ENST00000349036.9:c.2485C>A	ENST00000349036.9:p.Arg829Ser
	ENST00000464788.6:c.424C>A	ENST00000464788.6:p.Arg142Ser
	ENST00000371095.7:c.559C>A	ENST00000371095.7:p.Arg187Ser
	ENST00000354359.12:c.604C>A	ENST00000354359.12:p.Arg202Ser
	ENST00000603546.2:c.424C>A	ENST00000603546.2:p.Arg142Ser
	ENST00000265620.11:c.556C>A	ENST00000265620.11:p.Arg186Ser
	ENST00000470512.6:c.427C>A	ENST00000470512.6:p.Arg143Ser
	ENST00000482112.6:c.379C>A	ENST00000482112.6:p.Arg127Ser
	ENST00000480232.6:c.427C>A	ENST00000480232.6:p.Arg143Ser
	ENST00000419558.7:c.*459C>A
	ENST00000469431.6:c.424C>A	ENST00000469431.6:p.Arg142Ser
	ENST00000488652.6:c.424C>A	ENST00000488652.6:p.Arg142Ser
	ENST00000492907.6:c.382C>A	ENST00000492907.6:p.Arg128Ser
	ENST00000683015.1:c.*513C>A
	ENST00000476935.6:c.379C>A	ENST00000476935.6:p.Arg127Ser
	ENST00000663479.2:c.427C>A	ENST00000663479.2:p.Arg143Ser
	ENST00000667293.2:c.424C>A	ENST00000667293.2:p.Arg142Ser
	ENST00000676826.2:c.2533C>A	ENST00000676826.2:p.Arg845Ser
	ENST00000682803.1:c.274C>A	ENST00000682803.1:p.Arg92Ser
	ENST00000657090.1:c.424C>A	ENST00000657090.1:p.Arg142Ser
	ENST00000462499.6:c.382C>A	ENST00000462499.6:p.Arg128Ser
	ENST00000453292.7:c.*462C>A
	ENST00000371085.8:c.601C>A	ENST00000371085.8:p.Arg201Ser
	ENST00000371075.7:c.*507C>A
	ENST00000485673.6:c.382C>A	ENST00000485673.6:p.Arg128Ser
	ENST00000477931.5:c.424C>A	ENST00000477931.5:p.Arg142Ser
	ENST00000656419.1:c.130C>A	ENST00000656419.1:p.Arg44Ser

Summary

MGeND

Clinical significance	not provided
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM1566192	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute
not provided	body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
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	2003-05-01	no assertion criteria provided	PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC	somatic	Detail
Pathogenic	2003-05-01	no assertion criteria provided	Polyostotic fibrous dysplasia, somatic, mosaic	somatic	Detail
Pathogenic	2003-05-01	no assertion criteria provided	Cushing syndrome	somatic	Detail
not provided		no assertion provided	McCune-Albright syndrome	germline	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>A (p.Arg201Ser) AND PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC	ClinVar	Detail
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND Polyostotic fibrous dysplasia, somatic, mosaic	ClinVar	Detail
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) AND Cushing syndrome	ClinVar	Detail
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) 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: A

Genome browser

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

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript