chr3:41266124:A>G Detail (hg19) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,124-41,266,124
hg38 chr3:41,224,633-41,224,633 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001098209.1:c.121A>G NP_001091679.1:p.Thr41Ala
NM_001904.3:c.121A>G NP_001895.1:p.Thr41Ala
NM_001098210.1:c.121A>G NP_001091680.1:p.Thr41Ala
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 16
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 COSM5664 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided liver cell carcinoma 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 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
Pathogenic pancreatic desmoid-type fibromatosis (DTF) somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
not provided other 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 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct 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; other 2016-05-01 no assertion criteria provided hepatoblastoma somatic Detail
Pathogenic 1999-09-01 no assertion criteria provided Desmoid tumor caused by somatic mutation somatic Detail
Likely pathogenic no assertion criteria provided not provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate 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 pancreatic 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 Malignant neoplasm of body of uterus 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 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
association no assertion criteria provided Atypical endometrial hyperplasia somatic Detail
Likely pathogenic 2019-07-18 criteria provided, single submitter desmoid tumor germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Desmoid Fibromatosis B Diagnostic Supports Positive Somatic 4 18832571 Detail
Desmoid Fibromatosis B Prognostic Supports Better Outcome Somatic 3 18832571 Detail
Desmoid Fibromatosis B Diagnostic Supports Positive Somatic 4 22766794 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.247 hepatoblastoma NA CLINVAR Detail
0.120 Desmoid tumor caused by somatic mutation NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... CIViC Evidence Detail
In an analysis of 138 desmoid fibromatosis tumors, which is a rare, nonmetastatic neoplasm marked by... CIViC Evidence Detail
In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in... CIViC Evidence Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Hepatoblastoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Desmoid tumor caused by somatic mutation ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND not provided ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Adrenal cortex carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Pancreatic adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Malignant melanoma of skin ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Lung adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Neoplasm of the large intestine ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Atypical endometrial hyperplasia ClinVar Detail
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Desmoid tumor ClinVar 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
rs121913412 dbSNP
Genome
hg19
Position
chr3:41,266,124-41,266,124
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
T41A
Transcript 1 (CIViC Variant)
ENST00000349496.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1285
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