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NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
6
First in ClinVar:
Mar 8, 2017
Most recent Submission:
Mar 8, 2017
Last evaluated:
May 31, 2016
Accession:
VCV000376496.1
Variation ID:
376496
Description:
single nucleotide variant
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NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)

Allele ID
363375
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.32
Genomic location
3: 179198937 (GRCh38) GRCh38 UCSC
3: 178916725 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006218.4:c.112C>G MANE Select NP_006209.2:p.Arg38Gly missense
NC_000003.12:g.179198937C>G
NC_000003.11:g.178916725C>G
... more HGVS
Protein change
R38G
Other names
-
Canonical SPDI
NC_000003.12:179198936:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602928
dbSNP: rs749415085
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 RCV000419739.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420508.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000427069.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431174.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436970.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437732.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PIK3CA No evidence available No evidence available GRCh38
GRCh37
648 681

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
Neoplasm of uterine cervix
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507111.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G
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: SCV000507108.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Gastric adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507109.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G
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: SCV000507110.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507113.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507112.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G

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
http://docm.genome.wustl.edu/variants/ENST00000263967:c.112C>G - - - -

Text-mined citations for rs749415085...

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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 Apr 25, 2022