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

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

Type Transcript Protein
RefSeq NM_080426.3:c.559C>T NP_536351.1:p.Arg187Cys
NM_001077489.3:c.556C>T NP_001070957.1:p.Arg186Cys
NM_001309840.1:c.*504C>T
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 5
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
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 tgv235258559 TogoVar
COSMIC COSM123397 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/11/30 borderline malignancy mucinous tumors somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Likely pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
Pathogenic other somatic MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other somatic MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-08 criteria provided, single submitter McCune-Albright syndrome germline somatic Detail
Pathogenic 2014-05-23 no assertion criteria provided Sex cord-stromal tumor somatic Detail
Pathogenic 2014-05-23 no assertion criteria provided Cushing syndrome somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm 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 Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma 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 Breast neoplasm 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 gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Pathogenic 2014-05-23 no assertion criteria provided Pituitary adenoma 3, multiple types somatic Detail
Pathogenic 2023-08-17 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Irinotecan,Vemurafenib,Cetuximab C Predictive Supports Resistance Somatic 2 27729313 Detail
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

DescrptionSourceLinks
Phase 1b study of vemurafenib, cetuximab and irinotecan in 19 BRAF V600E mutant colorectal cancer pa... CIViC Evidence Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND McCune-Albright syndrome ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Sex cord-stromal tumor ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Cushing syndrome ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Neoplasm ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Hepatocellular carcinoma ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Neoplasm of the large intestine ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Lung adenocarcinoma ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Neoplasm of uterine cervix ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Breast neoplasm ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Adrenal cortex carcinoma ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Gastric adenocarcinoma ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Malignant melanoma of skin ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND Pituitary adenoma 3, multiple types ClinVar Detail
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) AND not provided 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
T
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
Variant (CIViC) (CIViC Variant)
R201C
Transcript 1 (CIViC Variant)
ENST00000371085.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/826
Genome browser