NM_000314.7(PTEN):c.209+769T>C AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 1, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000209819.1

Allele description [Variation Report for NM_000314.7(PTEN):c.209+769T>C]

NM_000314.7(PTEN):c.209+769T>C

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.7(PTEN):c.209+769T>C
HGVS:
  • NC_000010.11:g.87926326T>C
  • NG_007466.2:g.67888T>C
  • NM_000314.7:c.209+769T>C
  • NM_001304717.5:c.729+769T>C
  • NM_001304718.2:c.-541-4720T>C
  • LRG_311:g.67888T>C
  • NC_000010.10:g.89686083T>C
Links:
dbSNP: rs34382179
NCBI 1000 Genomes Browser:
rs34382179
Molecular consequence:
  • NM_000314.7:c.209+769T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.729+769T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.-541-4720T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000265397University of Washington Department of Laboratory Medicine, University of Washingtonno assertion criteria providedLikely benign
(Dec 1, 2015)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000265397.1

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

Last Updated: Jan 9, 2021

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