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NM_000314.8(PTEN):c.465dup (p.Gly156fs) AND Prostate cancer, hereditary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2024
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:
RCV003484353.1

Allele description [Variation Report for NM_000314.8(PTEN):c.465dup (p.Gly156fs)]

NM_000314.8(PTEN):c.465dup (p.Gly156fs)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.465dup (p.Gly156fs)
HGVS:
  • NC_000010.11:g.87933224dup
  • NG_007466.2:g.74786dup
  • NM_000314.8:c.465dupMANE SELECT
  • NM_001304717.5:c.984dup
  • NM_001304718.2:c.-286dup
  • NP_000305.3:p.Gly156Trpfs
  • NP_000305.3:p.Gly156fs
  • NP_001291646.4:p.Gly329fs
  • LRG_311t1:c.465dup
  • LRG_311:g.74786dup
  • LRG_311p1:p.Gly156Trpfs
  • NC_000010.10:g.89692981dup
  • NM_000314.4:c.465dup
  • NM_000314.8:c.464_465insTMANE SELECT
Protein change:
G156fs
Molecular consequence:
  • NM_001304718.2:c.-286dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.465dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.984dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Prostate cancer, hereditary, 1 (HPC1)
Identifiers:
MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004232013Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca
no assertion criteria provided
Uncertain significance
(Jan 1, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV004232013.1

#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: Feb 4, 2024