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NM_000314.8(PTEN):c.1012del (p.Ser338fs) AND Endometrial carcinoma

Germline classification:
Pathogenic (1 submission)
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:
RCV000681620.1

Allele description [Variation Report for NM_000314.8(PTEN):c.1012del (p.Ser338fs)]

NM_000314.8(PTEN):c.1012del (p.Ser338fs)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.1012del (p.Ser338fs)
HGVS:
  • NC_000010.11:g.87961104del
  • NG_007466.2:g.102666del
  • NM_000314.8:c.1012delMANE SELECT
  • NM_001304717.5:c.1531del
  • NM_001304718.2:c.421del
  • NP_000305.3:p.Ser338fs
  • NP_001291646.4:p.Ser511fs
  • NP_001291647.1:p.Ser141fs
  • LRG_311:g.102666del
  • NC_000010.10:g.89720861del
  • NC_000010.11:g.87961101del
Protein change:
S141fs
Links:
dbSNP: rs1564568660
NCBI 1000 Genomes Browser:
rs1564568660
Molecular consequence:
  • NM_000314.8:c.1012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1531del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.421del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000808062Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute
no assertion criteria provided
Pathogenicsomaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute, SCV000808062.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024