NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn) AND PIK3CA related overgrowth syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2020
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:: RCV001289462.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)]

NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)

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.271G>A (p.Asp91Asn)

HGVS:

NC_000003.12:g.179199096G>A
NG_012113.2:g.55574G>A
NM_006218.4:c.271G>AMANE SELECT
NP_006209.2:p.Asp91Asn
LRG_310:g.55574G>A
NC_000003.11:g.178916884G>A

Protein change:

D91N

Links:

dbSNP: rs1724341846

NCBI 1000 Genomes Browser:

rs1724341846

Molecular consequence:

NM_006218.4:c.271G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001474045	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	no assertion criteria provided	Pathogenic (Dec 21, 2020)	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001474045

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

no assertion criteria provided

Pathogenic
(Dec 21, 2020)

somatic

clinical testing

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	somatic	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators..

Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10.

PubMed [citation]

PMID:: 34170046

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001474045.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Aug 18, 2024

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