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

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_016592.3:c.*508G>A
	NM_080426.3:c.560G>A	NP_536351.1:p.Arg187His
	NM_001077490.2:c.2531G>A	NP_001070958.1:p.Arg844His
	NM_080425.3:c.2531G>A	NP_536350.2:p.Arg844His
	NM_000516.5:c.602G>A	NP_000507.1:p.Arg201His
	NM_001077489.3:c.557G>A	NP_001070957.1:p.Arg186His
	NM_001309840.1:c.*505G>A
	NM_001309861.1:c.*505G>A
	NM_001077488.3:c.605G>A	NP_001070956.1:p.Arg202His
Ensemble	ENST00000371075.7:c.*508G>A
	ENST00000603546.2:c.425G>A	ENST00000603546.2:p.Arg142His
	ENST00000464788.6:c.425G>A	ENST00000464788.6:p.Arg142His
	ENST00000371095.7:c.560G>A	ENST00000371095.7:p.Arg187His
	ENST00000481039.6:c.383G>A	ENST00000481039.6:p.Arg128His
	ENST00000467227.6:c.383G>A	ENST00000467227.6:p.Arg128His
	ENST00000371100.9:c.2531G>A	ENST00000371100.9:p.Arg844His
	ENST00000485673.6:c.383G>A	ENST00000485673.6:p.Arg128His
	ENST00000468895.6:c.602G>A	ENST00000468895.6:p.Arg201His
	ENST00000488546.6:c.383G>A	ENST00000488546.6:p.Arg128His
	ENST00000371102.8:c.2489G>A	ENST00000371102.8:p.Arg830His
	ENST00000371085.8:c.602G>A	ENST00000371085.8:p.Arg201His
	ENST00000492907.6:c.383G>A	ENST00000492907.6:p.Arg128His
	ENST00000472183.6:c.425G>A	ENST00000472183.6:p.Arg142His
	ENST00000477931.5:c.425G>A	ENST00000477931.5:p.Arg142His
	ENST00000478585.6:c.383G>A	ENST00000478585.6:p.Arg128His
	ENST00000604005.6:c.425G>A	ENST00000604005.6:p.Arg142His
	ENST00000469431.6:c.425G>A	ENST00000469431.6:p.Arg142His
	ENST00000470512.6:c.428G>A	ENST00000470512.6:p.Arg143His
	ENST00000419558.7:c.*460G>A
	ENST00000480975.5:c.380G>A	ENST00000480975.5:p.Arg127His
	ENST00000488652.6:c.425G>A	ENST00000488652.6:p.Arg142His
	ENST00000482112.6:c.380G>A	ENST00000482112.6:p.Arg127His
	ENST00000480232.6:c.428G>A	ENST00000480232.6:p.Arg143His
	ENST00000467321.6:c.425G>A	ENST00000467321.6:p.Arg142His
	ENST00000476935.6:c.380G>A	ENST00000476935.6:p.Arg127His
	ENST00000265620.11:c.557G>A	ENST00000265620.11:p.Arg186His
	ENST00000306090.12:c.506G>A	ENST00000306090.12:p.Arg169His
	ENST00000313949.11:c.*505G>A
	ENST00000349036.9:c.2486G>A	ENST00000349036.9:p.Arg829His
	ENST00000354359.12:c.605G>A	ENST00000354359.12:p.Arg202His
	ENST00000453292.7:c.*463G>A
	ENST00000462499.6:c.383G>A	ENST00000462499.6:p.Arg128His
	ENST00000667293.2:c.425G>A	ENST00000667293.2:p.Arg142His
	ENST00000663479.2:c.428G>A	ENST00000663479.2:p.Arg143His
	ENST00000683015.1:c.*514G>A
	ENST00000657090.1:c.425G>A	ENST00000657090.1:p.Arg142His
	ENST00000656419.1:c.131G>A	ENST00000656419.1:p.Arg44His
	ENST00000682803.1:c.275G>A	ENST00000682803.1:p.Arg92His
	ENST00000676826.2:c.2534G>A	ENST00000676826.2:p.Arg845His

Summary

MGeND

Clinical significance	Pathogenic not provided other
Variant entry	57
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	COSM94388	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Condition	Origin	Submission ID	Submitter	Institute	Citation
not provided	abdominal part of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	fundus of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	appendix	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	anal canal	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	extrahepatic bile duct	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	head of pancreas	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	body of pancreas	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ill-defined sites within the digestive system	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	Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center
other	Primary malignant neoplasm of extrahepatic bile duct (disorder)	unknown	MGS000023 (TMGS000082)	Manabu Muto	Kyoto University
not provided	Adrenal cortical carcinoma	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
Pathogenic	other	somatic	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
not provided	other	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903
not provided	body of stomach	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	duodenum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	appendix	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	head of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	tail of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	ill-defined sites within the digestive system	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided	other	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-10-12	criteria provided, single submitter	McCune-Albright syndrome	germline somatic	Detail
Pathogenic	2014-05-23	no assertion criteria provided	Cushing syndrome	somatic	Detail
Pathogenic	2014-05-23	no assertion criteria provided	Sex cord-stromal tumor	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	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Adrenal cortex carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	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 uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Pathogenic	2014-05-23	no assertion criteria provided	Pituitary adenoma 3, multiple types	somatic	Detail
Pathogenic	2022-09-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-01-05	criteria provided, single submitter	Pseudohypoparathyroidism type I A	germline	Detail
Pathogenic	2024-01-30	criteria provided, single submitter	Inborn genetic diseases	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
0.240	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>A (p.Arg201His) AND McCune-Albright syndrome	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Cushing syndrome	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Sex cord-stromal tumor	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Gastric adenocarcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Hepatocellular carcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Neoplasm	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Malignant melanoma of skin	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Lung adenocarcinoma	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Breast neoplasm	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Pituitary adenoma 3, multiple types	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND not provided	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Pseudohypoparathyroidism type I A	ClinVar	Detail
NM_000516.7(GNAS):c.602G>A (p.Arg201His) AND Inborn genetic diseases	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: A
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.311604253351826E-4
Chromosome Counts in All Race (ExAC): 121394
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.413875479842496E-5

Genome browser

chr20:57484421:G>A Detail (hg19) (GNAS)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript