ClinVar Genomic variation as it relates to human health
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
Variation ID: 13983 Accession: VCV000013983.13
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q32.33 14: 104780214 (GRCh38) [ NCBI UCSC ] 14: 105246551 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Feb 14, 2024 Oct 31, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001382430.1:c.49G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001369359.1:p.Glu17Lys missense NM_001014431.2:c.49G>A NP_001014431.1:p.Glu17Lys missense NM_001014432.2:c.49G>A NP_001014432.1:p.Glu17Lys missense NM_001382431.1:c.49G>A NP_001369360.1:p.Glu17Lys missense NM_001382432.1:c.49G>A NP_001369361.1:p.Glu17Lys missense NM_001382433.1:c.49G>A NP_001369362.1:p.Glu17Lys missense NM_005163.2:c.49G>A NP_005154.2:p.Glu17Lys missense NC_000014.9:g.104780214C>T NC_000014.8:g.105246551C>T NG_012188.1:g.20531G>A LRG_721:g.20531G>A LRG_721t2:c.49G>A LRG_721p2:p.Glu17Lys P31749:p.Glu17Lys - Protein change
- E17K
- Other names
- -
- Canonical SPDI
- NC_000014.9:104780213:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 833 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
|
Aug 18, 2011 | RCV000015017.4 | |
Pathogenic (1) |
no assertion criteria provided
|
Aug 18, 2011 | RCV000015018.4 | |
Pathogenic (1) |
no assertion criteria provided
|
Aug 18, 2011 | RCV000015019.4 | |
Pathogenic (3) |
criteria provided, single submitter
|
Oct 31, 2023 | RCV000031926.9 | |
Pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000430173.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000419412.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000421850.1 | |
Pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000436698.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000421009.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000427484.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000421696.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000438154.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000426386.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000440828.1 | |
Pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000429060.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000443761.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000444311.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000434120.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000431237.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000439982.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000431723.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000445271.1 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 2, 2022 | RCV000795313.6 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 6, 2022 | RCV001813745.2 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 06, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV002061056.2
First in ClinVar: Jan 22, 2022 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate that E17K is a gain-of-function variant, as E17K produced increased Akt1 activation and downstream signaling compared with wild type (Yi et … (more)
Published functional studies demonstrate that E17K is a gain-of-function variant, as E17K produced increased Akt1 activation and downstream signaling compared with wild type (Yi et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in biopsy samples of patients with Proteus syndrome (Lindhurst et al., 2011); This variant is associated with the following publications: (PMID: 30103035, 26872686, 29681107, 17611497, 21793738, 23237847, 18954143, 25782637, 32617723, 33442022, 33030203, 33303690) (less)
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Pathogenic
(Jan 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cowden syndrome 6
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000934768.4
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AKT1 function (PMID: 17611497, 18954143, 21793738, … (more)
For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AKT1 function (PMID: 17611497, 18954143, 21793738, 23237847). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 13983). This missense change has been observed in individuals with Proteus syndrome (PMID: 21793738). This variant is present in population databases (rs121434592, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 17 of the AKT1 protein (p.Glu17Lys). (less)
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Pathogenic
(Oct 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Proteus syndrome
Affected status: yes
Allele origin:
somatic
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV004176945.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
An AKT1 c.49G>A (p.Glu17Lys) variant was identified at an allelic fraction that is consistent with somatic origin. This variant has been reported in numerous individuals … (more)
An AKT1 c.49G>A (p.Glu17Lys) variant was identified at an allelic fraction that is consistent with somatic origin. This variant has been reported in numerous individuals with Proteus syndrome (Lindhurst MJ et al., PMID: 21793738; Wee JS et al., PMID: 24850616; Pithadia DJ et al., PMID: 32035943; Schmidt J et al., PMID: 35670639; McNulty SN et al. PMID: 31585106) and in numerous types of cancer in the cancer database COSMIC (Genomic mutation ID: COSV62571334). It has been reported in the ClinVar database as a pathogenic variant by two submitters (ClinVar ID: 13983). The AKT1 c.49G>A (p.Glu17Lys) variant is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. It resides within a region, the pleckstrin homology domain, of AKT1 that is defined as a critical functional domain (Shoji K et al. PMID:19491896). Functional studies show that the AKT1 c.49G>A (p.Glu17Lys) variant significantly activates AKT1 phosphorylation and signaling in patient cell lines and animal models, indicating that this variant impacts protein function (Lindhurst MJ et al., PMID: 21793738; Blum N, Harris MP., PMID: 36621776). Based on an internally-developed protocol informed by the ACMG/AMP guidelines (Richards S et al., PMID: 25741868), the AKT1 c.49G>A (p.Glu17Lys) variant is classified as pathogenic. (less)
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Pathogenic
(Aug 18, 2011)
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no assertion criteria provided
Method: literature only
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COLORECTAL CANCER, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000035274.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 … (more)
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 (8%) breast cancer (114480) samples, 3 of 51 (6%) colorectal cancers (114500), and 1 of 50 (2%) ovarian cancers (167000). DNA from normal adjacent tissue or white blood cells showed no evidence of this mutation, which occurs in the PHD domain of AKT1. The AKT1 mutation was mutually exclusive with respect to mutations in PIK3CA (171834) and complete loss of PTEN (601728) protein expression. Carpten et al. (2007) showed that this mutation alters the AKT1-PHD conformation, results in activation of AKT1, and alters the subcellular location of AKT1 to the plasma membrane. Furthermore, Carpten et al. (2007) found that the AKT1 containing the E17K mutation was able to transform cells in culture and induce leukemia in mice. Lindhurst et al. (2011) performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome (176920), as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating E17K mutation in the AKT1 gene in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the E17K mutation in one or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. Mutant cell lines demonstrated greater AKT phosphorylation than control cell lines, and single-cell clones established from the same starting culture but differing in mutation status had different levels of AKT phosphorylation. (less)
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Pathogenic
(Aug 18, 2011)
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no assertion criteria provided
Method: literature only
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OVARIAN CANCER, SOMATIC
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000035275.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 … (more)
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 (8%) breast cancer (114480) samples, 3 of 51 (6%) colorectal cancers (114500), and 1 of 50 (2%) ovarian cancers (167000). DNA from normal adjacent tissue or white blood cells showed no evidence of this mutation, which occurs in the PHD domain of AKT1. The AKT1 mutation was mutually exclusive with respect to mutations in PIK3CA (171834) and complete loss of PTEN (601728) protein expression. Carpten et al. (2007) showed that this mutation alters the AKT1-PHD conformation, results in activation of AKT1, and alters the subcellular location of AKT1 to the plasma membrane. Furthermore, Carpten et al. (2007) found that the AKT1 containing the E17K mutation was able to transform cells in culture and induce leukemia in mice. Lindhurst et al. (2011) performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome (176920), as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating E17K mutation in the AKT1 gene in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the E17K mutation in one or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. Mutant cell lines demonstrated greater AKT phosphorylation than control cell lines, and single-cell clones established from the same starting culture but differing in mutation status had different levels of AKT phosphorylation. (less)
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Pathogenic
(Aug 18, 2011)
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no assertion criteria provided
Method: literature only
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BREAST CANCER, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000035273.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 … (more)
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 (8%) breast cancer (114480) samples, 3 of 51 (6%) colorectal cancers (114500), and 1 of 50 (2%) ovarian cancers (167000). DNA from normal adjacent tissue or white blood cells showed no evidence of this mutation, which occurs in the PHD domain of AKT1. The AKT1 mutation was mutually exclusive with respect to mutations in PIK3CA (171834) and complete loss of PTEN (601728) protein expression. Carpten et al. (2007) showed that this mutation alters the AKT1-PHD conformation, results in activation of AKT1, and alters the subcellular location of AKT1 to the plasma membrane. Furthermore, Carpten et al. (2007) found that the AKT1 containing the E17K mutation was able to transform cells in culture and induce leukemia in mice. Lindhurst et al. (2011) performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome (176920), as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating E17K mutation in the AKT1 gene in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the E17K mutation in one or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. Mutant cell lines demonstrated greater AKT phosphorylation than control cell lines, and single-cell clones established from the same starting culture but differing in mutation status had different levels of AKT phosphorylation. (less)
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Pathogenic
(Aug 18, 2011)
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no assertion criteria provided
Method: literature only
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PROTEUS SYNDROME, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000043964.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 … (more)
Carpten et al. (2007) identified a 49G-A transition in the AKT1 gene, resulting in a glu17-to-lys (E17K) substitution, in tumor specimens from 5 of 61 (8%) breast cancer (114480) samples, 3 of 51 (6%) colorectal cancers (114500), and 1 of 50 (2%) ovarian cancers (167000). DNA from normal adjacent tissue or white blood cells showed no evidence of this mutation, which occurs in the PHD domain of AKT1. The AKT1 mutation was mutually exclusive with respect to mutations in PIK3CA (171834) and complete loss of PTEN (601728) protein expression. Carpten et al. (2007) showed that this mutation alters the AKT1-PHD conformation, results in activation of AKT1, and alters the subcellular location of AKT1 to the plasma membrane. Furthermore, Carpten et al. (2007) found that the AKT1 containing the E17K mutation was able to transform cells in culture and induce leukemia in mice. Lindhurst et al. (2011) performed exome sequencing of 11 DNA samples from 6 patients with Proteus syndrome (176920), as well as 1 sample each from 5 unaffected parents and from 1 patient's unaffected identical twin sib, and identified an activating E17K mutation in the AKT1 gene in 7 samples from 3 patients. The association was confirmed using a custom restriction-enzyme assay: overall, 26 (90%) of 29 patients with Proteus syndrome who were tested carried the E17K mutation in one or more samples, with the fraction of mutant DNA in the positive specimens ranging from 1% to approximately 50%. Mutant cell lines demonstrated greater AKT phosphorylation than control cell lines, and single-cell clones established from the same starting culture but differing in mutation status had different levels of AKT phosphorylation. (less)
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Prostate adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504512.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(Jul 14, 2015)
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no assertion criteria provided
Method: literature only
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Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504510.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
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Non-small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504511.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504513.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
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Small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504515.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504514.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504519.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
|
Osteosarcoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504521.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
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Prostate neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504520.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504516.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
None
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504517.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Thyroid tumor
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504518.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
|
Tumor of meninges
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504522.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Hepatocellular carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504523.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504527.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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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: SCV000504524.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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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: SCV000504525.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504526.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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not provided
(-)
|
no classification provided
Method: literature only
|
Proteus syndrome
Affected status: unknown
Allele origin:
somatic
|
GeneReviews
Accession: SCV000054577.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Proteus Syndrome. | Adam MP | - | 2023 | PMID: 22876373 |
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 |
Molecular profiling of small cell lung cancer in a Japanese cohort. | Wakuda K | Lung cancer (Amsterdam, Netherlands) | 2014 | PMID: 24657128 |
Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas. | Joseph CG | Genes, chromosomes & cancer | 2014 | PMID: 24190505 |
Alterations in the EGFR pathway coincide in colorectal cancer and impact on prognosis. | Neumann J | Virchows Archiv : an international journal of pathology | 2013 | PMID: 23934607 |
A detailed immunohistochemical analysis of the PI3K/AKT/mTOR pathway in lung cancer: correlation with PIK3CA, AKT1, K-RAS or PTEN mutational status and clinicopathological features. | Trigka EA | Oncology reports | 2013 | PMID: 23728071 |
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing. | Han SW | PloS one | 2013 | PMID: 23700467 |
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. | Clark VE | Science (New York, N.Y.) | 2013 | PMID: 23348505 |
Functional analysis of non-hotspot AKT1 mutants found in human breast cancers identifies novel driver mutations: implications for personalized medicine. | Yi KH | Oncotarget | 2013 | PMID: 23237847 |
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. | Imielinski M | Cell | 2012 | PMID: 22980975 |
The mutational landscape of lethal castration-resistant prostate cancer. | Grasso CS | Nature | 2012 | PMID: 22722839 |
The landscape of cancer genes and mutational processes in breast cancer. | Stephens PJ | Nature | 2012 | PMID: 22722201 |
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. | Barbieri CE | Nature genetics | 2012 | PMID: 22610119 |
Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers. | Santarpia L | Breast cancer research and treatment | 2012 | PMID: 22538770 |
Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes. | Boyault S | Breast cancer research and treatment | 2012 | PMID: 21512767 |
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. | Lindhurst MJ | The New England journal of medicine | 2011 | PMID: 21793738 |
Deactivation of Akt by a small molecule inhibitor targeting pleckstrin homology domain and facilitating Akt ubiquitination. | Jo H | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 21464312 |
Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. | O'Brien C | Clinical cancer research : an official journal of the American Association for Cancer Research | 2010 | PMID: 20453058 |
A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes. | Fumagalli D | BMC cancer | 2010 | PMID: 20233444 |
AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma. | Cohen Y | Gynecologic oncology | 2010 | PMID: 19853286 |
Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. | Dunlap J | Breast cancer research and treatment | 2010 | PMID: 19418217 |
Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1. | Ricarte-Filho JC | Cancer research | 2009 | PMID: 19487299 |
Detection of the transforming AKT1 mutation E17K in non-small cell lung cancer by high resolution melting. | Do H | BMC research notes | 2008 | PMID: 18611285 |
AKT1(E17K) in human solid tumours. | Bleeker FE | Oncogene | 2008 | PMID: 18504432 |
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | Carpten JD | Nature | 2007 | PMID: 17611497 |
http://docm.genome.wustl.edu/variants/ENST00000349310:c.49G>A | - | - | - | - |
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Text-mined citations for rs121434592 ...
HelpRecord last updated Feb 14, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.