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NM_000314.8(PTEN):c.802-6_802-2delinsG AND Cowden syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 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:
RCV003450577.1

Allele description [Variation Report for NM_000314.8(PTEN):c.802-6_802-2delinsG]

NM_000314.8(PTEN):c.802-6_802-2delinsG

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.802-6_802-2delinsG
HGVS:
  • NC_000010.11:g.87960888_87960892delinsG
  • NG_007466.2:g.102450_102454delinsG
  • NM_000314.8:c.802-6_802-2delinsGMANE SELECT
  • NM_001304717.5:c.1322-6_1322-2delinsG
  • NM_001304718.2:c.211-6_211-2delinsG
  • LRG_311:g.102450_102454delinsG
  • NC_000010.10:g.89720645_89720649delinsG
Molecular consequence:
  • NM_000314.8:c.802-6_802-2delinsG - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001304717.5:c.1322-6_1322-2delinsG - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001304718.2:c.211-6_211-2delinsG - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV004185935Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Oct 2, 2023) 		unknownclinical testing

PubMed (2)
[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

Diffuse Esophageal Glycogenic Acanthosis and Colon Polyposis in a Patient With Cowden Syndrome.

Modi RM, Arnold CA, Stanich PP.

Clin Gastroenterol Hepatol. 2017 Aug;15(8):e131-e132. doi: 10.1016/j.cgh.2016.12.006. Epub 2016 Dec 21. No abstract available.

PubMed [citation]
PMID:
28013114

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ, Romigh T, Sesock K, Eng C.

Hum Mutat. 2017 Oct;38(10):1372-1377. doi: 10.1002/humu.23288. Epub 2017 Jul 17.

PubMed [citation]
PMID:
28677221
PMCID:
PMC5599331

Details of each submission

From Myriad Genetics, Inc., SCV004185935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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: 28677221, 28013114]. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 28677221].

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

Last Updated: Dec 30, 2023