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NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)

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Interpretation:
Pathogenic/Likely pathogenic, other​

Review status:
no assertion criteria provided
Submissions:
11 (Most recent: Aug 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000017584.1
Variation ID:
17584
Description:
single nucleotide variant
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NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)

Allele ID
32623
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.1
Genomic location
3: 41224613 (GRCh38) GRCh38 UCSC
3: 41266104 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.41266104G>A
NC_000003.12:g.41224613G>A
NG_013302.2:g.30163G>A
... more HGVS
Protein change
G34E, G27E
Other names
-
Canonical SPDI
NC_000003.12:41224612:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs28931589
ClinGen: CA127277
UniProtKB: P35222#VAR_017620
OMIM: 116806.0008
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423249.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000426491.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422250.1
Likely pathogenic, other 2 no assertion criteria provided May 31, 2016 RCV000443977.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432939.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433938.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434538.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443851.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439589.1
Pathogenic 1 no assertion criteria provided Apr 1, 1999 RCV000019149.5
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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
229 237

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
1: Mutations known to be diagnostic, prognostic and/or predictive of treatment in the specific tumor type tested;
(May 01, 2016)
no assertion criteria provided
Method: clinical testing
MEDULLOBLASTOMA
SOMATIC:C3222_MEDULLOBLASTOMA
(Somatic mutation)
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: SCV000599908.1
Submitted: (Aug 18, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 01, 1999)
no assertion criteria provided
Method: literature only
PILOMATRICOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000039437.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505412.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505414.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505415.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505416.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Hepatocellular carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505417.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm of ovary
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505418.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505419.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adrenocortical carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505413.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Medulloblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505420.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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
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
http://docm.genome.wustl.edu/variants/ENST00000349496:c.101G>A - - - -

Text-mined citations for rs28931589...

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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 Sep 06, 2021