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NM_000314.8(PTEN):c.761_765del (p.Lys254fs) AND Prostate cancer, somatic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 1997
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:
RCV000008276.5

Allele description [Variation Report for NM_000314.8(PTEN):c.761_765del (p.Lys254fs)]

NM_000314.8(PTEN):c.761_765del (p.Lys254fs)

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.761_765del (p.Lys254fs)
Other names:
NM_000314.6(PTEN):c.761_765delAAGTA
HGVS:
  • NC_000010.11:g.87957979_87957983del
  • NG_007466.2:g.99541_99545del
  • NM_000314.8:c.761_765delMANE SELECT
  • NM_001304717.5:c.1280_1284del
  • NM_001304718.2:c.170_174del
  • NP_000305.3:p.Lys254fs
  • NP_001291646.4:p.Lys427fs
  • NP_001291647.1:p.Lys57fs
  • LRG_311:g.99541_99545del
  • NC_000010.10:g.89717736_89717740del
  • NC_000010.11:g.87957979_87957983delAAGTA
  • NM_000314.4:c.761_765delAAGTA
Protein change:
K254fs
Links:
OMIM: 601728.0018; dbSNP: rs606231169
NCBI 1000 Genomes Browser:
rs606231169
Molecular consequence:
  • NM_000314.8:c.761_765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1280_1284del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.170_174del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Prostate cancer, somatic
Identifiers:
MedGen: C4015779

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028483OMIM
no assertion criteria provided
Pathogenic
(Nov 15, 1997) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Frequent inactivation of PTEN/MMAC1 in primary prostate cancer.

Cairns P, Okami K, Halachmi S, Halachmi N, Esteller M, Herman JG, Jen J, Isaacs WB, Bova GS, Sidransky D.

Cancer Res. 1997 Nov 15;57(22):4997-5000.

PubMed [citation]
PMID:
9371490

Details of each submission

From OMIM, SCV000028483.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Cairns et al. (1997) found deletion of 10q23 in 23 of 80 prostate tumors (176807). Homozygous deletion of the PTEN gene was implicated in 6 cases by testing with new intragenic markers. Repeat sequence analysis of the coding region of the PTEN and the intron/exon boundaries in the remaining 17 prostate tumors with 10q LOH demonstrated 4 tumors with somatic mutations. One of the mutations was a 5-bp deletion involving nucleotides 761-765 in exon 7 and resulting in a frameshift. The identification of the second 'hit' in 10 (43%) of 23 tumors with LOH at 10q23 established PTEN as a main inactivation target of 10q loss in sporadic prostate cancer.

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

Last Updated: Jun 23, 2024