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NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)

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Interpretation:
Pathogenic; other​

Review status:
no assertion criteria provided
Submissions:
2
First in ClinVar:
Sep 10, 2016
Most recent Submission:
Sep 26, 2017
Last evaluated:
May 1, 2016
Accession:
VCV000017576.1
Variation ID:
17576
Description:
3bp deletion
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NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)

Allele ID
32615
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
3p22.1
Genomic location
3: 41224643-41224645 (GRCh38) GRCh38 UCSC
3: 41266136-41266138 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001904.4:c.133_135del MANE Select NP_001895.1:p.Ser45del
NM_001098209.2:c.133_135del NP_001091679.1:p.Ser45del
NM_001098210.2:c.133_135del NP_001091680.1:p.Ser45del
... more HGVS
Protein change
S45del, S38del
Other names
CTNNB1, 3-BP DEL, SER45DEL
Canonical SPDI
NC_000003.12:41224642:CTTCT:CT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA250690
OMIM: 116806.0001
dbSNP: rs587776850
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 9065402 Fig. 3B to determine the location of this allele on the current reference sequence.
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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 Mar 21, 1997 RCV000019137.5
other 1 no assertion criteria provided May 1, 2016 RCV000505566.1
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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 		283 593
LOC126806658 - - - GRCh38 - 190

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Pathogenic
(Mar 21, 1997)
 no assertion criteria provided
Method: literature only
 COLORECTAL CANCER, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000039425.2
First in ClinVar: Apr 04, 2013
Last updated: Sep 10, 2016
Publications:
PubMed (1)
PubMed: 9065402
Comment on evidence:
In 2 colorectal cancer (see 114500) cell lines that expressed full-length APC, yet had escaped inhibition of transcriptional activation mediated by beta-catenin and TCF7L2, Morin … (more)
other
2: Mutations in members of targetable cancer pathways, gene families, or functional groups, regardless of tumor type;
(May 01, 2016)
 no assertion criteria provided
Method: clinical testing
 WILMS TUMOR
SOMATIC:c3267_wilms tumor
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Donald Williams Parsons Laboratory,Baylor College of Medicine
Additional submitter:
Donald Williams Parsons Laboratory,Baylor College of Medicine
Study: CSER-BASIC3
Accession: SCV000599912.1
First in ClinVar: Sep 26, 2017
Last updated: Sep 26, 2017
Publications:
PubMed (1)
PubMed: 26822237

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
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. Parsons DW JAMA oncology 2016 PMID: 26822237
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

Text-mined citations for rs587776850...

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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 Mar 26, 2023 

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