chr3:41224646:C>T Detail (hg38) (CTNNB1, LOC126806658)

Information

Genome

Assembly Position
hg19 chr3:41,266,137-41,266,137 View the variant detail on this assembly version.
hg38 chr3:41,224,646-41,224,646

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.134C>T NP_001895.1:p.Ser45Phe
NM_001098210.1:c.134C>T NP_001091680.1:p.Ser45Phe
NM_001098209.1:c.134C>T NP_001091679.1:p.Ser45Phe
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM5667 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 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided disease 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 Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma somatic Detail
other 2016-05-01 no assertion criteria provided nephroblastoma somatic Detail
Pathogenic 2020-10-30 no assertion criteria provided gallbladder cancer somatic 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 Poor Outcome Somatic 3 18832571 Detail
Desmoid Fibromatosis B Diagnostic Supports Positive 4 22766794 Detail
Desmoid Fibromatosis Meloxicam C Predictive Does Not Support Sensitivity/Response Somatic 2 24788118 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.283 liver carcinoma NA CLINVAR Detail
<0.001 Fibromatosis, Aggressive A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... BeFree 23913621 Detail
<0.001 Fibromatosis, Aggressive A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... BeFree 23913621 Detail
0.018 Fibromatosis, Aggressive CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid t... BeFree 24788118 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
Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, on... CIViC Evidence Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Hepatocellular carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Disease ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Neoplasm of the large intestine ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Malignant melanoma of skin ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Prostate adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Melanoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Lung adenocarcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Adrenal cortex carcinoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Nephroblastoma ClinVar Detail
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) AND Gallbladder cancer ClinVar Detail
NA DisGeNET Detail
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... DisGeNET Detail
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... DisGeNET Detail
CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study... 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
rs121913409 dbSNP
Genome
hg38
Position
chr3:41,224,646-41,224,646
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
S45F
Transcript 1 (CIViC Variant)
ENST00000349496.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1286
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