U.S. flag

An official website of the United States government

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) AND Neoplasm of the large intestine

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
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:
RCV000431600.2

Allele description [Variation Report for NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)]

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

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.3129G>A (p.Met1043Ile)
HGVS:
  • NC_000003.12:g.179234286G>A
  • NG_012113.2:g.90764G>A
  • NM_006218.4:c.3129G>AMANE SELECT
  • NP_006209.2:p.Met1043Ile
  • LRG_310t1:c.3129G>A
  • LRG_310:g.90764G>A
  • NC_000003.11:g.178952074G>A
  • NM_006218.2:c.3129G>A
  • P42336:p.Met1043Ile
Protein change:
M1043I
Links:
UniProtKB: P42336#VAR_026190; dbSNP: rs121913283
NCBI 1000 Genomes Browser:
rs121913283
Molecular consequence:
  • NM_006218.4:c.3129G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of the large intestine
Synonyms:
Colorectal Neoplasms; Colorectal neoplasm
Identifiers:
MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504935Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024