ClinVar Genomic variation as it relates to human health
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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
consequenceNM_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 NM_001330729.2:c.112_114del NP_001317658.1:p.Ser38del NC_000003.12:g.41224645_41224647del NC_000003.11:g.41266136_41266138del NG_013302.2:g.30195_30197del LRG_1108:g.30195_30197del LRG_1108t1:c.133_135del LRG_1108p1:p.Ser45del - 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 |
Help
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
HelpInterpretation (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 |
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)
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 et al. (1997) found a mutation in a downstream component of the APC tumor suppressor pathway, namely in the CTNNB1 gene. Each tumor line had a different mutation: a 3-bp deletion that removed an amino acid (ser45) in one and a C-to-A missense mutation that changed ser33 to tyr (116806.0002) in the other. Analysis of paraffin-embedded archival tissue from the first patient confirmed the somatic nature of this mutation and its presence in the primary tumor before culture. Both mutations affected serines that have been implicated in the downregulation of beta-catenin through phosphorylation. (less)
|
|
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 |
|
Functional evidence
HelpThere 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
HelpTitle | 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...
HelpThese 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