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NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 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:
RCV002474047.1

Allele description [Variation Report for NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly)]

NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly)
HGVS:
  • NC_000010.11:g.87965429A>G
  • NG_007466.2:g.106991A>G
  • NM_000314.8:c.1169A>GMANE SELECT
  • NM_001304717.5:c.1688A>G
  • NM_001304718.2:c.578A>G
  • NP_000305.3:p.Glu390Gly
  • NP_000305.3:p.Glu390Gly
  • NP_001291646.4:p.Glu563Gly
  • NP_001291647.1:p.Glu193Gly
  • LRG_311t1:c.1169A>G
  • LRG_311:g.106991A>G
  • LRG_311p1:p.Glu390Gly
  • NC_000010.10:g.89725186A>G
  • NM_000314.4:c.1169A>G
Protein change:
E193G
Molecular consequence:
  • NM_000314.8:c.1169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002770058GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 22, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002770058.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18626510)

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

Last Updated: May 1, 2024