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NM_000314.8(PTEN):c.164+1_164+9delinsTTAC AND Cowden syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 26, 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:
RCV003452534.1

Allele description [Variation Report for NM_000314.8(PTEN):c.164+1_164+9delinsTTAC]

NM_000314.8(PTEN):c.164+1_164+9delinsTTAC

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
HGVS:
  • NC_000010.11:g.87894110_87894118delinsTTAC
  • NG_007466.2:g.35672_35680delinsTTAC
  • NM_000314.8:c.164+1_164+9delinsTTACMANE SELECT
  • NM_001304717.5:c.684+1_684+9delinsTTAC
  • NM_001304718.2:c.-542+1_-542+9delinsTTAC
  • LRG_311:g.35672_35680delinsTTAC
  • NC_000010.10:g.89653867_89653875delinsTTAC
Molecular consequence:
  • NM_000314.8:c.164+1_164+9delinsTTAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001304717.5:c.684+1_684+9delinsTTAC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001304718.2:c.-542+1_-542+9delinsTTAC - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188933Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Sep 26, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

Mester JL, Zhou M, Prescott N, Eng C.

Urology. 2012 May;79(5):1187.e1-7. doi: 10.1016/j.urology.2011.12.025. Epub 2012 Mar 3.

PubMed [citation]
PMID:
22381246
PMCID:
PMC3341468

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Ngeow J, Stanuch K, Mester JL, Barnholtz-Sloan JS, Eng C.

J Clin Oncol. 2014 Jun 10;32(17):1818-24. doi: 10.1200/JCO.2013.53.6656. Epub 2014 Apr 28.

PubMed [citation]
PMID:
24778394
PMCID:
PMC4039869
See all PubMed Citations (4)

Details of each submission

From Myriad Genetics, Inc., SCV004188933.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 22381246, 24778394, 17526800, 11886535].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023