NM_000314.8(PTEN):c.764T>A (p.Val255Glu) AND PTEN-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 24, 2018
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:: RCV000761336.2

Allele description [Variation Report for NM_000314.8(PTEN):c.764T>A (p.Val255Glu)]

NM_000314.8(PTEN):c.764T>A (p.Val255Glu)

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.764T>A (p.Val255Glu)

HGVS:

NC_000010.11:g.87957982T>A
NG_007466.2:g.99544T>A
NM_000314.8:c.764T>AMANE SELECT
NM_001304717.5:c.1283T>A
NM_001304718.2:c.173T>A
NP_000305.3:p.Val255Glu
NP_001291646.4:p.Val428Glu
NP_001291647.1:p.Val58Glu
LRG_311t1:c.764T>A
LRG_311:g.99544T>A
NC_000010.10:g.89717739T>A
NM_000314.4:c.764T>A
NM_000314.7:c.764T>A

Protein change:

V255E

Links:

dbSNP: rs1564566998

NCBI 1000 Genomes Browser:

rs1564566998

Molecular consequence:

NM_000314.8:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304717.5:c.1283T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304718.2:c.173T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: PTEN-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000891322	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 24, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11156408, 23361946, 14976311, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891322

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 24, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor.

Georgescu MM, Kirsch KH, Kaloudis P, Yang H, Pavletich NP, Hanafusa H.

Cancer Res. 2000 Dec 15;60(24):7033-8.

PubMed [citation]

PMID:: 11156408

Macrocephaly as a clinical indicator of genetic subtypes in autism.

Klein S, Sharifi-Hannauer P, Martinez-Agosto JA.

Autism Res. 2013 Feb;6(1):51-6. doi: 10.1002/aur.1266. Epub 2013 Jan 29.

PubMed [citation]

PMID:: 23361946
PMCID:: PMC3581311

See all PubMed Citations (4)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000891322.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 12, 2024

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