U.S. flag

An official website of the United States government

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Lung adenocarcinoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000431723.1

Allele description [Variation Report for NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)]

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)

Gene:
AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
HGVS:
  • NC_000014.9:g.104780214C>T
  • NG_012188.1:g.20531G>A
  • NM_001014431.2:c.49G>A
  • NM_001014432.2:c.49G>A
  • NM_001382430.1:c.49G>AMANE SELECT
  • NM_001382431.1:c.49G>A
  • NM_001382432.1:c.49G>A
  • NM_001382433.1:c.49G>A
  • NM_005163.2:c.49G>A
  • NP_001014431.1:p.Glu17Lys
  • NP_001014432.1:p.Glu17Lys
  • NP_001369359.1:p.Glu17Lys
  • NP_001369360.1:p.Glu17Lys
  • NP_001369361.1:p.Glu17Lys
  • NP_001369362.1:p.Glu17Lys
  • NP_005154.2:p.Glu17Lys
  • LRG_721t2:c.49G>A
  • LRG_721:g.20531G>A
  • LRG_721p2:p.Glu17Lys
  • NC_000014.8:g.105246551C>T
  • NM_001382430.1:c.49G>A
  • P31749:p.Glu17Lys
Protein change:
E17K; GLU17LYS
Links:
UniProtKB: P31749#VAR_055422; OMIM: 164730.0001; dbSNP: rs121434592
NCBI 1000 Genomes Browser:
rs121434592
Molecular consequence:
  • NM_001014431.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001014432.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382430.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382431.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382432.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382433.1:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005163.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lung adenocarcinoma
Synonyms:
Adenocarcinoma of lung; Adenocarcinoma of lung, somatic
Identifiers:
MONDO: MONDO:0005061; MeSH: D000077192; MedGen: C0152013; Human Phenotype Ontology: HP:0030078

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504519Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099

Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing.

Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, et al.

Cell. 2012 Sep 14;150(6):1107-20. doi: 10.1016/j.cell.2012.08.029.

PubMed [citation]
PMID:
22980975
PMCID:
PMC3557932
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024