NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) AND Cowden syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 10, 2013
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:: RCV000144510.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)]

NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)

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.1145G>A (p.Arg382Lys)

HGVS:

NC_000003.12:g.179204588G>A
NG_012113.2:g.61066G>A
NM_006218.4:c.1145G>AMANE SELECT
NP_006209.2:p.Arg382Lys
LRG_310t1:c.1145G>A
LRG_310:g.61066G>A
NC_000003.11:g.178922376G>A
NM_006218.2:c.1145G>A
P42336:p.Arg382Lys

Protein change:

R382K; ARG382LYS

Links:

UniProtKB: P42336#VAR_069790; OMIM: 171834.0019; dbSNP: rs587777794

NCBI 1000 Genomes Browser:

rs587777794

Molecular consequence:

NM_006218.4:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cowden syndrome 5 (CWS5)
Identifiers:: MONDO: MONDO:0014047; MedGen: C3554518; Orphanet: 201; OMIM: 615108

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189829	OMIM	no assertion criteria provided	Pathogenic (Jan 10, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189829

OMIM

no assertion criteria provided

Pathogenic
(Jan 10, 2013)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.

Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.

PubMed [citation]

PMID:: 23246288
PMCID:: PMC3542473

Details of each submission

From OMIM, SCV000189829.1

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

Description

In a 47-year-old male with Cowden syndrome (CWS5; 615108), Orloff et al. (2013) identified heterozygosity for a G-to-A transition at nucleotide 1145 in exon 5 of the PIK3CA gene, resulting in an arginine-to-lysine substitution at codon 382 (R382K).

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

Last Updated: Apr 23, 2022

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