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NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(10);Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
12 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000017582.1
Variation ID:
17582
Description:
single nucleotide variant
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NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)

Allele ID
32621
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
P35222:p.Gly34Val
NC_000003.11:g.41266104G>T
NC_000003.12:g.41224613G>T
... more HGVS
Protein change
G34V, G27V
Other names
CTNNB1, GLY34VAL (rs28931589)
Canonical SPDI
NC_000003.12:41224612:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA127273
UniProtKB: P35222#VAR_017622
OMIM: 116806.0005
dbSNP: rs28931589
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 Jan 15, 1999 RCV000019146.5
Uncertain significance 1 no assertion criteria provided - RCV000149120.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000417805.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000418475.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000418024.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000425225.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000428985.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000427137.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000429363.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435058.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437867.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436574.1
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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
258 266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Unknown
(-)
no assertion criteria provided
Method: not provided
Malignant tumor of prostate
Allele origin: somatic
Science for Life laboratory, Karolinska Institutet
Accession: SCV000088762.1
Submitted: (Nov 10, 2011)
Comment:
TumorID:SWE-18
Evidence details
Comment:
Converted during submission to Uncertain significance.
Pathogenic
(Jan 15, 1999)
no assertion criteria provided
Method: literature only
HEPATOBLASTOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000039434.2
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: SCV000505421.1
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: SCV000505422.1
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: SCV000505423.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Craniopharyngioma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505424.1
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: SCV000505425.1
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: SCV000505426.1
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: SCV000505427.1
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: SCV000505428.1
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: SCV000505429.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505430.1
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
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
The mitochondrial and autosomal mutation landscapes of prostate cancer. Lindberg J European urology 2013 PMID: 23265383
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene. Koch A Cancer research 1999 PMID: 9927029
http://docm.genome.wustl.edu/variants/ENST00000349496:c.101G>T - - - -

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 Dec 04, 2021