chr3:41266097:G>A Detail (hg19) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,097-41,266,097
hg38 chr3:41,224,606-41,224,606 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.94G>A NP_001895.1:p.Asp32Asn
NM_001098210.1:c.94G>A NP_001091680.1:p.Asp32Asn
NM_001098209.1:c.94G>A NP_001091679.1:p.Asp32Asn
Summary

MGeND

Clinical significance Likely pathogenic not provided
Variant entry 13
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM5672 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided colon, unspecified 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 upper third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic Adenocarcinoma of stomach (disorder) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma 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 gastric adenocarcinoma 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 hepatocellular carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Esophageal squamous cell carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Endometrium neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Pathogenic 2021-07-30 criteria provided, single submitter 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
0.482 pilomatrixoma A common human skin tumour is caused by activating mutations in beta-catenin. UNIPROT 10192393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Medulloblastoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Gastric adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Malignant melanoma of skin ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Esophageal squamous cell carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Endometrium neoplasm ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Neoplasm of uterine cervix ClinVar Detail
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Juvenile nasopharyngeal angiofibroma ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A common human skin tumour is caused by activating mutations in beta-catenin. 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
rs28931588 dbSNP
Genome
hg19
Position
chr3:41,266,097-41,266,097
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser