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NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND PIK3CA-related overgrowth

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003987334.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)]

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

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.1624G>A (p.Glu542Lys)
Other names:
NM_006218.3(PIK3CA):c.1624G>A; NM_006218.4(PIK3CA):c.1624G>A
HGVS:
  • NC_000003.12:g.179218294G>A
  • NG_012113.2:g.74772G>A
  • NM_006218.4:c.1624G>AMANE SELECT
  • NP_006209.2:p.Glu542Lys
  • LRG_310t1:c.1624G>A
  • LRG_310:g.74772G>A
  • NC_000003.11:g.178936082G>A
  • NM_006218.2:c.1624G>A
  • NM_006218.3:c.1624G>A
  • P42336:p.Glu542Lys
  • NM_006218.2:c.1625G>A
Protein change:
E542K; GLU542LYS
Links:
UniProtKB: P42336#VAR_026173; OMIM: 171834.0009; dbSNP: rs121913273
NCBI 1000 Genomes Browser:
rs121913273
Molecular consequence:
  • NM_006218.4:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:
PIK3CA-related overgrowth
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004804559GenomeConnect - Brain Gene Registry
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004804559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 06-14-2017 by Clinical Genomics Lab at Washington University in St. Louis. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024