chr20:57484596:A>T 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	chr20:57,484,596-57,484,596
hg38	chr20:58,909,541-58,909,541 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077490.2:c.2609A>T	NP_001070958.1:p.Gln870Leu
	NM_080425.3:c.2609A>T	NP_536350.2:p.Gln870Leu
	NM_016592.3:c.*586A>T
	NM_001077488.3:c.683A>T	NP_001070956.1:p.Gln228Leu
	NM_001309840.1:c.*583A>T
	NM_001309861.1:c.*583A>T
	NM_001077489.3:c.635A>T	NP_001070957.1:p.Gln212Leu
	NM_080426.3:c.638A>T	NP_536351.1:p.Gln213Leu
	NM_000516.5:c.680A>T	NP_000507.1:p.Gln227Leu
Ensemble	ENST00000604005.6:c.503A>T	ENST00000604005.6:p.Gln168Leu
	ENST00000488546.6:c.461A>T	ENST00000488546.6:p.Gln154Leu
	ENST00000371100.9:c.2609A>T	ENST00000371100.9:p.Gln870Leu
	ENST00000349036.9:c.2564A>T	ENST00000349036.9:p.Gln855Leu
	ENST00000492907.6:c.461A>T	ENST00000492907.6:p.Gln154Leu
	ENST00000478585.6:c.461A>T	ENST00000478585.6:p.Gln154Leu
	ENST00000371102.8:c.2567A>T	ENST00000371102.8:p.Gln856Leu
	ENST00000470512.6:c.506A>T	ENST00000470512.6:p.Gln169Leu
	ENST00000476935.6:c.458A>T	ENST00000476935.6:p.Gln153Leu
	ENST00000468895.6:c.680A>T	ENST00000468895.6:p.Gln227Leu
	ENST00000467321.6:c.503A>T	ENST00000467321.6:p.Gln168Leu
	ENST00000481039.6:c.461A>T	ENST00000481039.6:p.Gln154Leu
	ENST00000467227.6:c.461A>T	ENST00000467227.6:p.Gln154Leu
	ENST00000371075.7:c.*586A>T
	ENST00000603546.2:c.503A>T	ENST00000603546.2:p.Gln168Leu
	ENST00000354359.12:c.683A>T	ENST00000354359.12:p.Gln228Leu
	ENST00000480232.6:c.506A>T	ENST00000480232.6:p.Gln169Leu
	ENST00000313949.11:c.*583A>T
	ENST00000488652.6:c.503A>T	ENST00000488652.6:p.Gln168Leu
	ENST00000419558.7:c.*538A>T
	ENST00000265620.11:c.635A>T	ENST00000265620.11:p.Gln212Leu
	ENST00000477931.5:c.503A>T	ENST00000477931.5:p.Gln168Leu
	ENST00000469431.6:c.503A>T	ENST00000469431.6:p.Gln168Leu
	ENST00000472183.6:c.503A>T	ENST00000472183.6:p.Gln168Leu
	ENST00000464788.6:c.503A>T	ENST00000464788.6:p.Gln168Leu
	ENST00000480975.5:c.458A>T	ENST00000480975.5:p.Gln153Leu
	ENST00000482112.6:c.458A>T	ENST00000482112.6:p.Gln153Leu
	ENST00000485673.6:c.461A>T	ENST00000485673.6:p.Gln154Leu
	ENST00000371095.7:c.638A>T	ENST00000371095.7:p.Gln213Leu
	ENST00000371085.8:c.680A>T	ENST00000371085.8:p.Gln227Leu
	ENST00000306090.12:c.584A>T	ENST00000306090.12:p.Gln195Leu
	ENST00000657090.1:c.503A>T	ENST00000657090.1:p.Gln168Leu
	ENST00000656419.1:c.209A>T	ENST00000656419.1:p.Gln70Leu
	ENST00000682803.1:c.353A>T	ENST00000682803.1:p.Gln118Leu
	ENST00000676826.2:c.2612A>T	ENST00000676826.2:p.Gln871Leu
	ENST00000667293.2:c.503A>T	ENST00000667293.2:p.Gln168Leu
	ENST00000663479.2:c.506A>T	ENST00000663479.2:p.Gln169Leu
	ENST00000462499.6:c.461A>T	ENST00000462499.6:p.Gln154Leu
	ENST00000453292.7:c.*541A>T
	ENST00000683015.1:c.*592A>T

Summary

MGeND

Clinical significance	not provided
Variant entry	2
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	COSM1731065	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
not provided		no assertion provided	McCune-Albright syndrome	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.371	McCune-Albright syndrome	NA	CLINVAR	Detail
0.243	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR	Detail
0.120	pituitary-dependent Cushing's disease	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) AND McCune-Albright syndrome	ClinVar	Detail
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) AND Neoplasm	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs121913494 dbSNP
Genome: hg19
Position: chr20:57,484,596-57,484,596
Variant Type: snv
Reference Allele: A
Alternative Allele: T

Genome browser

chr20:57484596:A>T Detail (hg19) (GNAS)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript