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NM_000314.8(PTEN):c.802-12T>C AND Cowden syndrome 1

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 5, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000410996.3

Allele description [Variation Report for NM_000314.8(PTEN):c.802-12T>C]

NM_000314.8(PTEN):c.802-12T>C

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.802-12T>C
HGVS:
  • NC_000010.11:g.87960882T>C
  • NG_007466.2:g.102444T>C
  • NM_000314.8:c.802-12T>CMANE SELECT
  • NM_001304717.5:c.1322-12T>C
  • NM_001304718.2:c.211-12T>C
  • LRG_311t1:c.802-12T>C
  • LRG_311:g.102444T>C
  • NC_000010.10:g.89720639T>C
  • NM_000314.4:c.802-12T>C
  • NM_000314.6:c.802-12T>C
Links:
dbSNP: rs587781129
NCBI 1000 Genomes Browser:
rs587781129
Molecular consequence:
  • NM_000314.8:c.802-12T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.1322-12T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.211-12T>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489513Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Oct 14, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004019920Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(Apr 5, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000489513.2

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

From Myriad Genetics, Inc., SCV004019920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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

Last Updated: May 7, 2024