NM_006218.4(PIK3CA):c.832A>G (p.Met278Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002430451.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.832A>G (p.Met278Val)]

NM_006218.4(PIK3CA):c.832A>G (p.Met278Val)

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.832A>G (p.Met278Val)

HGVS:

NC_000003.12:g.179203562A>G
NG_012113.2:g.60040A>G
NM_006218.4:c.832A>GMANE SELECT
NP_006209.2:p.Met278Val
NP_006209.2:p.Met278Val
LRG_310t1:c.832A>G
LRG_310:g.60040A>G
LRG_310p1:p.Met278Val
NC_000003.11:g.178921350A>G
NM_006218.2:c.832A>G

Protein change:

M278V

Molecular consequence:

NM_006218.4:c.832A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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SRX22549570 (1)
SRA
Mus musculus RNA (guanine-9-) methyltransferase domain containing 2 (Rg9mtd2), m...
Mus musculus RNA (guanine-9-) methyltransferase domain containing 2 (Rg9mtd2), mRNA
gi|60593004|ref|NM_175389.3|

Nucleotide
Eukaryotic Initiation Factor-2B
Eukaryotic Initiation Factor-2B
A guanine nucleotide exchange factor that acts to restore EUKARYOTIC INITIATION FACTOR-2 to its GTP bound form.<br/>Year introduced: 2003(2000)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002682001	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002682001

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 15, 2021)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002682001.2

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

Description

The p.M278V variant (also known as c.832A>G), located in coding exon 4 of the PIK3CA gene, results from an A to G substitution at nucleotide position 832. The methionine at codon 278 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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