chr3:41266104:G>A Detail (hg19) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,104-41,266,104
hg38 chr3:41,224,613-41,224,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001098210.1:c.101G>A NP_001091680.1:p.Gly34Glu
NM_001904.3:c.101G>A NP_001895.1:p.Gly34Glu
NM_001098209.1:c.101G>A NP_001091679.1:p.Gly34Glu
Summary

MGeND

Clinical significance not provided
Variant entry 17
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 Likely pathogenic; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 116806 OMIM
HGNC 2514 HGNC
Ensembl ENSG00000168036 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5671 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided oesophagus, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided pancreatic cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided stomach cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-04-01 no assertion criteria provided pilomatrixoma 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 2015-07-14 no assertion criteria provided Neoplasm of ovary 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 Malignant neoplasm of body of uterus 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 lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic; other 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 pilomatrixoma NA CLINVAR Detail
0.247 hepatoblastoma NA CLINVAR Detail
0.202 Malignant neoplasm of prostate NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Pilomatrixoma ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Gastric adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Neoplasm of ovary ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Adrenal cortex carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Malignant melanoma of skin ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Lung adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Medulloblastoma 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
rs28931589 dbSNP
Genome
hg19
Position
chr3:41,266,104-41,266,104
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
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)
120958
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)
8.267332462507647E-6
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