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NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 22, 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:
RCV001775539.3

Allele description [Variation Report for NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)]

NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)

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.755A>G (p.Asp252Gly)
Other names:
NM_000314.6(PTEN):c.755A>G
HGVS:
  • NC_000010.11:g.87957973A>G
  • NG_007466.2:g.99535A>G
  • NM_000314.8:c.755A>GMANE SELECT
  • NM_001304717.5:c.1274A>G
  • NM_001304718.2:c.164A>G
  • NP_000305.3:p.Asp252Gly
  • NP_001291646.4:p.Asp425Gly
  • NP_001291647.1:p.Asp55Gly
  • LRG_311t1:c.755A>G
  • LRG_311:g.99535A>G
  • NC_000010.10:g.89717730A>G
  • NM_000314.4:c.755A>G
  • P60484:p.Asp252Gly
Protein change:
D252G; ASP252GLY
Links:
UniProtKB: P60484#VAR_032637; OMIM: 601728.0038; dbSNP: rs121909239
NCBI 1000 Genomes Browser:
rs121909239
Molecular consequence:
  • NM_000314.8:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.164A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002013433GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 22, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002013433.3

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

Description

Published functional studies demonstrate a damaging effect: reduced nuclear localization, protein expression, and lipid phosphastase activity, and inability to rescue neuronal hypertrophy in a mouse model (Rodriguez-Escudero et al., 2011; Fricano-Kugler et al., 2018; Spinelli et al., 2015; Mighell et al., 2018; Wong et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29706633, 29706350, 27535533, 26800850, 31086789, 23161105, 27221918, 26053092, 26579216, 17286265, 29373119, 17427195, 27405757, 21659347, 32150788, 23335809, 18626510, 29785012, 25527629, 15805158, 21828076)

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

Last Updated: Sep 29, 2024