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NM_000314.8(PTEN):c.738del (p.Leu247fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 16, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003477350.1

Allele description [Variation Report for NM_000314.8(PTEN):c.738del (p.Leu247fs)]

NM_000314.8(PTEN):c.738del (p.Leu247fs)

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.738del (p.Leu247fs)
HGVS:
  • NC_000010.11:g.87957956del
  • NG_007466.2:g.99518del
  • NM_000314.8:c.738delMANE SELECT
  • NM_001304717.5:c.1257del
  • NM_001304718.2:c.147del
  • NP_000305.3:p.Leu247Tyrfs
  • NP_000305.3:p.Leu247fs
  • NP_001291646.4:p.Leu420fs
  • NP_001291647.1:p.Leu50fs
  • LRG_311t1:c.738del
  • LRG_311:g.99518del
  • NC_000010.10:g.89717713del
  • NM_000314.4:c.738del
  • NM_000314.4:c.738delG
Protein change:
L247fs
Molecular consequence:
  • NM_000314.8:c.738del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1257del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.147del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219142Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Nov 16, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219142.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This frameshift variant alters the translational reading frame of the PTEN mRNA and is predicted to cause the premature termination of PTEN protein synthesis. The variant has not been reported in individuals with PTEN-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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

Last Updated: Jan 6, 2024