NM_006218.4(PIK3CA):c.965C>G (p.Thr322Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 22, 2023
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:: RCV004524030.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.965C>G (p.Thr322Arg)]

NM_006218.4(PIK3CA):c.965C>G (p.Thr322Arg)

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.965C>G (p.Thr322Arg)

HGVS:

NC_000003.12:g.179203695C>G
NG_012113.2:g.60173C>G
NM_006218.4:c.965C>GMANE SELECT
NP_006209.2:p.Thr322Arg
NP_006209.2:p.Thr322Arg
LRG_310t1:c.965C>G
LRG_310:g.60173C>G
LRG_310p1:p.Thr322Arg
NC_000003.11:g.178921483C>G
NM_006218.2:c.965C>G

Protein change:

T322R

Molecular consequence:

NM_006218.4:c.965C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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NADH dehydrogenase D3, partial (chloroplast) [Descurainia gilva]
NADH dehydrogenase D3, partial (chloroplast) [Descurainia gilva]
gi|89892239|gb|ABD78918.1|

Protein
Grade 2 Sinus Bradycardia, CTCAE
Grade 2 Sinus Bradycardia, CTCAE

MedGen
Gm8495 predicted gene 8495 [Mus musculus]
Gm8495 predicted gene 8495 [Mus musculus]
Gene ID:667174

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005024700	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005024700

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 22, 2023)

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, SCV005024700.1

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

Description

The p.T322R variant (also known as c.965C>G), located in coding exon 4 of the PIK3CA gene, results from a C to G substitution at nucleotide position 965. The threonine at codon 322 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 7, 2024

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