NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) AND PIK3CA related overgrowth syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2015
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:: RCV000201237.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)]

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

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.3129G>A (p.Met1043Ile)

HGVS:

NC_000003.12:g.179234286G>A
NG_012113.2:g.90764G>A
NM_006218.4:c.3129G>AMANE SELECT
NP_006209.2:p.Met1043Ile
LRG_310t1:c.3129G>A
LRG_310:g.90764G>A
NC_000003.11:g.178952074G>A
NM_006218.2:c.3129G>A
P42336:p.Met1043Ile

Protein change:

M1043I

Links:

UniProtKB: P42336#VAR_026190; dbSNP: rs121913283

NCBI 1000 Genomes Browser:

rs121913283

Molecular consequence:

NM_006218.4:c.3129G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PIK3CA related overgrowth syndrome
Synonyms:: PIK3CA related overgrowth spectrum; PIK3CA-associated segmental overgrowth; PIK3CA-Related Segmental Overgrowth
Identifiers:: MONDO: MONDO:1040002; MedGen: C4728213

Recent activity

Clear Turn Off Turn On

qSeq for rRNA gene of Deplonema papillatum: run2
qSeq for rRNA gene of Deplonema papillatum: run2

biosample

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255989	Clinical Genomics Laboratory, Washington University in St. Louis	no assertion criteria provided	Pathogenic (Jan 20, 2015)	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255989

Clinical Genomics Laboratory, Washington University in St. Louis

no assertion criteria provided

Pathogenic
(Jan 20, 2015)

somatic

clinical testing

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	clinical testing

Details of each submission

From Clinical Genomics Laboratory, Washington University in St. Louis, SCV000255989.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000515803)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	Buccal swab	not provided	(GTR000515803)	not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine