NM_006218.4(PIK3CA):c.685del (p.Thr229fs) AND Colorectal cancer

Germline classification:: 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:: RCV001293838.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.685del (p.Thr229fs)]

NM_006218.4(PIK3CA):c.685del (p.Thr229fs)

Gene:

PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q26.32

Genomic location:

Preferred name:

NM_006218.4(PIK3CA):c.685del (p.Thr229fs)

HGVS:

NC_000003.12:g.179201412del
NG_012113.2:g.57890del
NM_006218.4:c.685delMANE SELECT
NP_006209.2:p.Thr229fs
LRG_310:g.57890del
NC_000003.11:g.178919200del
NM_006218.4:c.685delAMANE SELECT

Protein change:

T229fs

Links:

dbSNP: rs1724405916

NCBI 1000 Genomes Browser:

rs1724405916

Molecular consequence:

NM_006218.4:c.685del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Colorectal cancer
Synonyms:: Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:: MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001481769	Genomic Center, National Cancer Institute	no assertion criteria provided	Pathogenic	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001481769

Genomic Center, National Cancer Institute

no assertion criteria provided

Pathogenic

germline

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV001481769.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	whole blood and tissue	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 16, 2023

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