NM_000314.6(PTEN):c.-997dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 21, 2017
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:: RCV000215111.12

Allele description [Variation Report for NM_000314.6(PTEN):c.-997dup]

NM_000314.6(PTEN):c.-997dup

Genes:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.6(PTEN):c.-997dup

HGVS:

NC_000010.11:g.87863472dup
NG_007466.2:g.5035dup
NG_033079.1:g.4966dup
NG_183718.1:g.193dup
NM_000314.4:c.-997dup
NM_000314.6:c.-997dup
NM_001126049.2:c.-985dupMANE SELECT
NM_001304717.4:c.-478dup
NM_001304718.1:c.-1702dup
LRG_1087t1:c.-985dup
LRG_311t1:c.-997dup
LRG_1087:g.4966dup
LRG_311:g.5035dup
NC_000010.10:g.89623229dup
NM_000314.4:c.-997dupC

Links:

dbSNP: rs876661265

NCBI 1000 Genomes Browser:

rs876661265

Molecular consequence:

NM_001126049.2:c.-985dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279924	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279924

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 21, 2017)

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, SCV000279924.5

#	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.-998dupC, and describes a duplication of one nucleotide 998 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is duplicated in brackets, is CTCT[dupC]GCTC. This variant, also called c.-997dupC using alternate numbering, has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available evidence, it is unclear whether PTEN c.-998dupC is a pathogenic or benign variant. 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: Nov 24, 2024

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