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NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
14 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000017577.1
Variation ID:
17577
Description:
single nucleotide variant
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NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)

Allele ID
32616
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.1
Genomic location
3: 41224610 (GRCh38) GRCh38 UCSC
3: 41266101 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.41266101C>A
NC_000003.12:g.41224610C>A
NG_013302.2:g.30160C>A
... more HGVS
Protein change
S33Y, S26Y
Other names
-
Canonical SPDI
NC_000003.12:41224609:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA127263
UniProtKB: P35222#VAR_017619
OMIM: 116806.0002
dbSNP: rs121913400
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 1, 1999 RCV000019138.5
Pathogenic 1 no assertion criteria provided Apr 1, 1999 RCV000019139.5
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423917.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435233.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000418289.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000443472.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426112.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430278.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000424968.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434171.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435972.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437025.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443834.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000444481.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTNNB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
265 273

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505374.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505375.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505376.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Pathogenic
(Apr 01, 1999)
no assertion criteria provided
Method: literature only
COLORECTAL CANCER, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000039426.2
Submitted: (Dec 30, 2010)
Publications:
PubMed (3)
PubMed: 9065402929421010192393
Comment on evidence:
See 116806.0001 and Morin et al. (1997). One of the 5 point mutations found by Ilyas et al. (1997) in colorectal cancer (see 114500) cell … (more)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505377.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Pancreatic adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505378.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Medulloblastoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505379.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (2)
PubMed: 2661901125157968
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Endometrial neoplasm
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505380.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 25157968
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Pathogenic
(Apr 01, 1999)
no assertion criteria provided
Method: literature only
PILOMATRICOMA, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000039427.2
Submitted: (Dec 30, 2010)
Publications:
PubMed (3)
PubMed: 9065402929421010192393
Comment on evidence:
See 116806.0001 and Morin et al. (1997). One of the 5 point mutations found by Ilyas et al. (1997) in colorectal cancer (see 114500) cell … (more)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Hepatocellular carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505381.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505382.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of prostate
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505383.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505384.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505385.1
Submitted: (Jul 18, 2016)
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
A common human skin tumour is caused by activating mutations in beta-catenin. Chan EF Nature genetics 1999 PMID: 10192393
Beta-catenin mutations in cell lines established from human colorectal cancers. Ilyas M Proceedings of the National Academy of Sciences of the United States of America 1997 PMID: 9294210
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Morin PJ Science (New York, N.Y.) 1997 PMID: 9065402
http://docm.genome.wustl.edu/variants/ENST00000349496:c.98C>A - - - -

Text-mined citations for rs121913400...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 14, 2022