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NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) AND Cowden syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 2023
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:
RCV003451291.1

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)

Name:
Cowden syndrome 1 (CWS1)
Identifiers:
MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188755Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Sep 26, 2023) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL, Belmadani M, Ganguly P, Meili F, Dingwall R, McDiarmid TA, Meyers WM, Herrington C, Young BP, Callaghan DB, Rogic S, Edwards M, Niciforovic A, Cau A, Rankin CH, O'Connor TP, Bamji SX, Loewen CJR, Allan DW, Pavlidis P, Haas K.

Nat Commun. 2020 Apr 29;11(1):2073. doi: 10.1038/s41467-020-15943-0.

PubMed [citation]
PMID:
32350270
PMCID:
PMC7190743

Details of each submission

From Myriad Genetics, Inc., SCV004188755.1

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

Description

This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 32350270].

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

Last Updated: Jun 23, 2024