chr3:41224645:T>C Detail (hg38) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,136-41,266,136 View the variant detail on this assembly version.
hg38 chr3:41,224,645-41,224,645

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.133T>C NP_001895.1:p.Ser45Pro
NM_001098210.1:c.133T>C NP_001091680.1:p.Ser45Pro
NM_001098209.1:c.133T>C NP_001091679.1:p.Ser45Pro
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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 COSM5663 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic no assertion criteria provided not provided 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 lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided disease somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Desmoid Fibromatosis B Diagnostic Supports Positive Somatic 3 18832571 Detail
Desmoid Fibromatosis B Prognostic Supports Better Outcome Somatic 1 18832571 Detail
Desmoid Fibromatosis B Diagnostic Supports Positive Somatic 3 22766794 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Agenesis of corpus callosum In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harb... BeFree 21733995 Detail
<0.001 Agenesis of corpus callosum In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harb... BeFree 21733995 Detail
0.283 liver carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... CIViC Evidence Detail
Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... 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.133T>C (p.Ser45Pro) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND not provided ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Adrenal cortex carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Lung adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Malignant melanoma of skin ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Melanoma ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Neoplasm of the large intestine ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Disease ClinVar Detail
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) AND Transitional cell carcinoma of the bladder ClinVar Detail
In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harbored p.Ser45del and ... DisGeNET Detail
In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harbored p.Ser45del and ... 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
rs121913407 dbSNP
Genome
hg38
Position
chr3:41,224,645-41,224,645
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
S45P
Transcript 1 (CIViC Variant)
ENST00000349496.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1287
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