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NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 2020
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:
RCV001251390.1

Allele description [Variation Report for NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)]

NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)

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.107G>A (p.Gly36Glu)
Other names:
NM_000314.8(PTEN):c.107G>A; p.Gly36Glu
HGVS:
  • NC_000010.11:g.87894052G>A
  • NG_007466.2:g.35614G>A
  • NM_000314.8:c.107G>AMANE SELECT
  • NM_001304717.5:c.626G>A
  • NM_001304718.2:c.-599G>A
  • NP_000305.3:p.Gly36Glu
  • NP_001291646.4:p.Gly209Glu
  • LRG_311t1:c.107G>A
  • LRG_311:g.35614G>A
  • NC_000010.10:g.89653809G>A
  • NM_000314.4:c.107G>A
  • NM_000314.6:c.107G>A
Protein change:
G209E
Links:
dbSNP: rs1554893792
NCBI 1000 Genomes Browser:
rs1554893792
Molecular consequence:
  • NM_001304718.2:c.-599G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426976Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 16, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer.

Bilbao C, Rodríguez G, Ramírez R, Falcón O, León L, Chirino R, Rivero JF, Falcón O Jr, Díaz-Chico BN, Díaz-Chico JC, Perucho M.

Int J Cancer. 2006 Aug 1;119(3):563-70.

PubMed [citation]
PMID:
16506206

Characterizing mutational heterogeneity in a glioblastoma patient with double recurrence.

Nickel GC, Barnholtz-Sloan J, Gould MP, McMahon S, Cohen A, Adams MD, Guda K, Cohen M, Sloan AE, LaFramboise T.

PLoS One. 2012;7(4):e35262. doi: 10.1371/journal.pone.0035262. Epub 2012 Apr 20.

PubMed [citation]
PMID:
22536362
PMCID:
PMC3335059
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001426976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Variant summary: PTEN c.107G>A (p.Gly36Glu) results in a non-conservative amino acid change located in the Protein-tyrosine phosphatase, catalytic domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251004 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The PTEN codon 36 is reported as frequently mutated somatically, particularly in GBM, and the p.G36E variant has been reported somatically in GBM, endometrial and esopho-gastric cancers (Bilbao_2006, Werner_2013, cosmic). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 23, 2024