NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) AND Transitional cell carcinoma of the bladder

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:: RCV000427202.8

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)]

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

Gene:

PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.32

Genomic location:

Preferred name:

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

HGVS:

NC_000003.12:g.179218303G>A
NG_012113.2:g.74781G>A
NM_006218.4:c.1633G>AMANE SELECT
NP_006209.2:p.Glu545Lys
LRG_310t1:c.1633G>A
LRG_310:g.74781G>A
NC_000003.10:g.180418785G>A
NC_000003.11:g.178936091G>A
NG_012113.1:g.74781G>A
NM_006218.2:c.1633G>A
NM_006218.3:c.1633G>A
P42336:p.Glu545Lys
c.1633G>A

Protein change:

E545K; GLU545LYS

Links:

UniProtKB: P42336#VAR_026178; OMIM: 171834.0003; dbSNP: rs104886003

NCBI 1000 Genomes Browser:

rs104886003

Molecular consequence:

NM_006218.4:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:: Transitional cell carcinoma of the bladder
Identifiers:: MONDO: MONDO:0005611; MedGen: C0279680; Human Phenotype Ontology: HP:0006740

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000503946	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000503946

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature 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

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503946.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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