NM_000314.4(PTEN):c.-1330A>G AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2015
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:: RCV000597993.10

Allele description [Variation Report for NM_000314.4(PTEN):c.-1330A>G]

NM_000314.4(PTEN):c.-1330A>G

Genes:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.4(PTEN):c.-1330A>G

HGVS:

NC_000010.11:g.87863139A>G
NG_007466.2:g.4702A>G
NG_033079.1:g.5299T>C
NM_001126049.2:c.-652T>CMANE SELECT
LRG_1087t1:c.-652T>C
LRG_311t1:c.-1330A>G
LRG_1087:g.5299T>C
LRG_311:g.4702A>G
NC_000010.10:g.89622896A>G
NM_000314.4:c.-1330A>G

Links:

dbSNP: rs1554889768

NCBI 1000 Genomes Browser:

rs1554889768

Molecular consequence:

NM_001126049.2:c.-652T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709688	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 30, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709688

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 30, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000709688.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted PTEN c.-1331A>G, and describes a nucleotide substitution 1331 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in brackets, is TGAC[A/G]CTGC. This variant, also called c.-1330A>G using alternate numbering, has not been published in the literature to our knowledge. Variants within the PTEN core promoter region (c.-798 to c.-1238) have been observed in individuals with characteristic features of Cowden syndrome (Zhou 2003). While the c.-1331A>G variant is outside of this core promoter region, it could still have an effect on transcription and, possibly, PTEN protein levels. Based on currently available information, it is unclear whether PTEN c.-1331A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Oct 20, 2024

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