chr20:57484421:G>T 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	chr20:57,484,421-57,484,421
hg38	chr20:58,909,366-58,909,366 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077489.3:c.557G>T	NP_001070957.1:p.Arg186Leu
	NM_001309840.1:c.*505G>T
	NM_001309861.1:c.*505G>T
	NM_001077488.3:c.605G>T	NP_001070956.1:p.Arg202Leu
	NM_016592.3:c.*508G>T
	NM_000516.5:c.602G>T	NP_000507.1:p.Arg201Leu
	NM_080426.3:c.560G>T	NP_536351.1:p.Arg187Leu
	NM_001077490.2:c.2531G>T	NP_001070958.1:p.Arg844Leu
	NM_080425.3:c.2531G>T	NP_536350.2:p.Arg844Leu
Ensemble	ENST00000265620.11:c.557G>T	ENST00000265620.11:p.Arg186Leu
	ENST00000306090.12:c.506G>T	ENST00000306090.12:p.Arg169Leu
	ENST00000313949.11:c.*505G>T
	ENST00000349036.9:c.2486G>T	ENST00000349036.9:p.Arg829Leu
	ENST00000354359.12:c.605G>T	ENST00000354359.12:p.Arg202Leu
	ENST00000371075.7:c.*508G>T
	ENST00000371085.8:c.602G>T	ENST00000371085.8:p.Arg201Leu
	ENST00000482112.6:c.380G>T	ENST00000482112.6:p.Arg127Leu
	ENST00000485673.6:c.383G>T	ENST00000485673.6:p.Arg128Leu
	ENST00000488546.6:c.383G>T	ENST00000488546.6:p.Arg128Leu
	ENST00000371095.7:c.560G>T	ENST00000371095.7:p.Arg187Leu
	ENST00000371100.9:c.2531G>T	ENST00000371100.9:p.Arg844Leu
	ENST00000371102.8:c.2489G>T	ENST00000371102.8:p.Arg830Leu
	ENST00000419558.7:c.*460G>T
	ENST00000453292.7:c.*463G>T
	ENST00000462499.6:c.383G>T	ENST00000462499.6:p.Arg128Leu
	ENST00000464788.6:c.425G>T	ENST00000464788.6:p.Arg142Leu
	ENST00000467227.6:c.383G>T	ENST00000467227.6:p.Arg128Leu
	ENST00000467321.6:c.425G>T	ENST00000467321.6:p.Arg142Leu
	ENST00000468895.6:c.602G>T	ENST00000468895.6:p.Arg201Leu
	ENST00000469431.6:c.425G>T	ENST00000469431.6:p.Arg142Leu
	ENST00000470512.6:c.428G>T	ENST00000470512.6:p.Arg143Leu
	ENST00000472183.6:c.425G>T	ENST00000472183.6:p.Arg142Leu
	ENST00000476935.6:c.380G>T	ENST00000476935.6:p.Arg127Leu
	ENST00000477931.5:c.425G>T	ENST00000477931.5:p.Arg142Leu
	ENST00000478585.6:c.383G>T	ENST00000478585.6:p.Arg128Leu
	ENST00000480232.6:c.428G>T	ENST00000480232.6:p.Arg143Leu
	ENST00000480975.5:c.380G>T	ENST00000480975.5:p.Arg127Leu
	ENST00000481039.6:c.383G>T	ENST00000481039.6:p.Arg128Leu
	ENST00000488652.6:c.425G>T	ENST00000488652.6:p.Arg142Leu
	ENST00000492907.6:c.383G>T	ENST00000492907.6:p.Arg128Leu
	ENST00000603546.2:c.425G>T	ENST00000603546.2:p.Arg142Leu
	ENST00000604005.6:c.425G>T	ENST00000604005.6:p.Arg142Leu
	ENST00000656419.1:c.131G>T	ENST00000656419.1:p.Arg44Leu
	ENST00000657090.1:c.425G>T	ENST00000657090.1:p.Arg142Leu
	ENST00000663479.2:c.428G>T	ENST00000663479.2:p.Arg143Leu
	ENST00000667293.2:c.425G>T	ENST00000667293.2:p.Arg142Leu
	ENST00000676826.2:c.2534G>T	ENST00000676826.2:p.Arg845Leu
	ENST00000682803.1:c.275G>T	ENST00000682803.1:p.Arg92Leu
	ENST00000683015.1:c.*514G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM308279	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	McCune-Albright syndrome	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Adrenal cortex carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	Neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	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
0.240	ACTH-independent macronodular adrenal hyperplasia	NA	CLINVAR		Detail
<0.001	Cryptogenic sexual precocity	Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie ...	BeFree	17101633	Detail
<0.001	Malignant tumor of colon	To ascertain the frequency in colon cancer we employed a sensitive pyrosequencin...	BeFree	24498230	Detail
0.371	McCune-Albright syndrome	Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie ...	BeFree	17101633	Detail
0.009	fibrous dysplasia	We confirmed the results in FD lesion-derived BMSCs and observed that the impair...	BeFree	22450860	Detail
<0.001	colon carcinoma	To ascertain the frequency in colon cancer we employed a sensitive pyrosequencin...	BeFree	24498230	Detail
0.002	pituitary adenoma	An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pitui...	BeFree	11836449	Detail
0.127	Precocious Puberty	Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie ...	BeFree	17101633	Detail
0.009	fibrous dysplasia	The lesions were tested for the R201H mutation in the GNAS gene, which is presen...	BeFree	25118809	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND McCune-Albright syndrome	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Breast neoplasm	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Malignant melanoma of skin	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Neoplasm	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) AND Lung adenocarcinoma	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism with...	DisGeNET	Detail
To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutat...	DisGeNET	Detail
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism with...	DisGeNET	Detail
We confirmed the results in FD lesion-derived BMSCs and observed that the impaired osteogenesis pote...	DisGeNET	Detail
To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutat...	DisGeNET	Detail
An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.	DisGeNET	Detail
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism with...	DisGeNET	Detail
The lesions were tested for the R201H mutation in the GNAS gene, which is present in fibrous dysplas...	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: rs121913495 dbSNP
Genome: hg19
Position: chr20:57,484,421-57,484,421
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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