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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

CTNNB1

Type	Transcript	Protein
RefSeq	NM_001904.3:c.134C>A	NP_001895.1:p.Ser45Tyr
	NM_001098210.1:c.134C>A	NP_001091680.1:p.Ser45Tyr
	NM_001098209.1:c.134C>A	NP_001091679.1:p.Ser45Tyr
Ensemble	ENST00000643031.1:c.134C>A	ENST00000643031.1:p.Ser45Tyr
	ENST00000643297.1:c.134C>A	ENST00000643297.1:p.Ser45Tyr
	ENST00000643541.1:c.134C>A	ENST00000643541.1:p.Ser45Tyr
	ENST00000349496.11:c.134C>A	ENST00000349496.11:p.Ser45Tyr
	ENST00000396183.7:c.134C>A	ENST00000396183.7:p.Ser45Tyr
	ENST00000396185.8:c.134C>A	ENST00000396185.8:p.Ser45Tyr
	ENST00000405570.6:c.134C>A	ENST00000405570.6:p.Ser45Tyr
	ENST00000431914.6:c.134C>A	ENST00000431914.6:p.Ser45Tyr
	ENST00000433400.6:c.134C>A	ENST00000433400.6:p.Ser45Tyr
	ENST00000441708.2:c.134C>A	ENST00000441708.2:p.Ser45Tyr
	ENST00000450969.6:c.134C>A	ENST00000450969.6:p.Ser45Tyr
	ENST00000453024.6:c.113C>A	ENST00000453024.6:p.Ser38Tyr
	ENST00000642248.1:c.134C>A	ENST00000642248.1:p.Ser45Tyr
	ENST00000642315.1:c.134C>A	ENST00000642315.1:p.Ser45Tyr
	ENST00000642426.1:c.134C>A	ENST00000642426.1:p.Ser45Tyr
	ENST00000642836.1:c.113C>A	ENST00000642836.1:p.Ser38Tyr
	ENST00000642886.1:c.134C>A	ENST00000642886.1:p.Ser45Tyr
	ENST00000642986.1:c.113C>A	ENST00000642986.1:p.Ser38Tyr
	ENST00000642992.1:c.134C>A	ENST00000642992.1:p.Ser45Tyr
	ENST00000643977.1:c.134C>A	ENST00000643977.1:p.Ser45Tyr
	ENST00000643992.1:c.134C>A	ENST00000643992.1:p.Ser45Tyr
	ENST00000644138.1:c.134C>A	ENST00000644138.1:p.Ser45Tyr
	ENST00000644524.1:c.113C>A	ENST00000644524.1:p.Ser38Tyr
	ENST00000644678.1:c.113C>A	ENST00000644678.1:p.Ser38Tyr
	ENST00000644867.1:c.134C>A	ENST00000644867.1:p.Ser45Tyr
	ENST00000644873.1:c.134C>A	ENST00000644873.1:p.Ser45Tyr
	ENST00000644906.2:c.134C>A	ENST00000644906.2:p.Ser45Tyr
	ENST00000645210.1:c.134C>A	ENST00000645210.1:p.Ser45Tyr
	ENST00000645276.1:c.134C>A	ENST00000645276.1:p.Ser45Tyr
	ENST00000645320.1:c.134C>A	ENST00000645320.1:p.Ser45Tyr
	ENST00000645493.1:c.113C>A	ENST00000645493.1:p.Ser38Tyr
	ENST00000645900.1:c.113C>A	ENST00000645900.1:p.Ser38Tyr
	ENST00000645982.1:c.134C>A	ENST00000645982.1:p.Ser45Tyr
	ENST00000646116.1:c.113C>A	ENST00000646116.1:p.Ser38Tyr
	ENST00000646174.1:c.113C>A	ENST00000646174.1:p.Ser38Tyr
	ENST00000646369.1:c.134C>A	ENST00000646369.1:p.Ser45Tyr
	ENST00000646381.1:c.113C>A	ENST00000646381.1:p.Ser38Tyr
	ENST00000646725.1:c.134C>A	ENST00000646725.1:p.Ser45Tyr
	ENST00000647264.1:c.113C>A	ENST00000647264.1:p.Ser38Tyr
	ENST00000647390.1:c.134C>A	ENST00000647390.1:p.Ser45Tyr
	ENST00000647413.2:c.134C>A	ENST00000647413.2:p.Ser45Tyr
	ENST00000715148.1:c.134C>A	ENST00000715148.1:p.Ser45Tyr
	ENST00000715149.1:c.134C>A	ENST00000715149.1:p.Ser45Tyr
	ENST00000715151.1:c.134C>A	ENST00000715151.1:p.Ser45Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

CTNNB1

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	COSM5692	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	melanoma	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
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		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	hepatocellular carcinoma	somatic	Detail

CIViC

[No Data.]

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

Descrption	Source	Links
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Lung adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Melanoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Prostate adenocarcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Malignant melanoma of skin	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Adrenal cortex carcinoma	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Neoplasm of the large intestine	ClinVar	Detail
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Hepatocellular carcinoma	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: A

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