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NM_006218.4(PIK3CA):c.1747-9C>T AND Cowden syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987360.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1747-9C>T]

NM_006218.4(PIK3CA):c.1747-9C>T

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.1747-9C>T
HGVS:
  • NC_000003.12:g.179219562C>T
  • NG_012113.2:g.76040C>T
  • NM_006218.4:c.1747-9C>TMANE SELECT
  • LRG_310t1:c.1747-9C>T
  • LRG_310:g.76040C>T
  • NC_000003.11:g.178937350C>T
  • NM_006218.2:c.1747-9C>T
Links:
dbSNP: rs201779641
NCBI 1000 Genomes Browser:
rs201779641
Molecular consequence:
  • NM_006218.4:c.1747-9C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cowden syndrome 1 (CWS1)
Identifiers:
MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001136639Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001136639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025