NM_000314.8(PTEN):c.-821C>A AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 16, 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:: RCV001027281.3

Allele description [Variation Report for NM_000314.8(PTEN):c.-821C>A]

NM_000314.8(PTEN):c.-821C>A

Genes:

LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [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.-821C>A

HGVS:

NC_000010.11:g.87863649C>A
NG_007466.2:g.5212C>A
NG_033079.1:g.4789G>T
NM_000314.8:c.-821C>AMANE SELECT
NM_001304717.5:c.-301C>A
NM_001304718.2:c.-1525C>A
LRG_311t1:c.-820C>A
LRG_1087:g.4789G>T
LRG_311:g.5212C>A
NC_000010.10:g.89623406C>A
NM_000314.4:c.-820C>A

Links:

dbSNP: rs1064793784

NCBI 1000 Genomes Browser:

rs1064793784

Molecular consequence:

NM_000314.8:c.-821C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001304717.5:c.-301C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001304718.2:c.-1525C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001189816	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001189816

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 16, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001189816.4

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

Description

The c.-820C>A variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a C to A substitution 820 bases upstream from the first translated codon. This variant is located in the promoter region of the PTEN gene; however, its potential impact on PTEN regulation has not yet been investigated (Zhou XP et al. Am J Hum Genet. 2003;73:404-411). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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