NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) AND CLOVES syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001256198.2

Allele description

NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)

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.1252G>A (p.Glu418Lys)

HGVS:

NC_000003.12:g.179210186G>A
NG_012113.2:g.66664G>A
NM_006218.4:c.1252G>AMANE SELECT
NP_006209.2:p.Glu418Lys
LRG_310t1:c.1252G>A
LRG_310:g.66664G>A
NC_000003.11:g.178927974G>A
NM_006218.2:c.1252G>A
NM_006218.3:c.1252G>A
c.1252G>A

Protein change:

E418K

Links:

dbSNP: rs397517199

NCBI 1000 Genomes Browser:

rs397517199

Molecular consequence:

NM_006218.4:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

gain_of_function_variant [Sequence Ontology: SO:0002053]

Observations:

Condition(s)

Name:: CLOVES syndrome
Synonyms:: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013038; MedGen: C2752042; Orphanet: 140944; OMIM: 612918

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429632	Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	no assertion criteria provided	Likely pathogenic	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001429632

Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

no assertion criteria provided

Likely pathogenic

somatic

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV001429632.1

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

Description

Variant found in affected tissue, variant absent in DNA from blood sample.

#	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		1	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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