NM_000314.8(PTEN):c.-777G>C AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2016
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:: RCV000483292.1

Allele description [Variation Report for NM_000314.8(PTEN):c.-777G>C]

NM_000314.8(PTEN):c.-777G>C

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.-777G>C

HGVS:

NC_000010.11:g.87863693G>C
NG_007466.2:g.5256G>C
NG_033079.1:g.4745C>G
NM_000314.8:c.-777G>CMANE SELECT
NM_001304717.5:c.-257G>C
NM_001304718.2:c.-1481G>C
LRG_311t1:c.-776G>C
LRG_1087:g.4745C>G
LRG_311:g.5256G>C
NC_000010.10:g.89623450G>C
NM_000314.4:c.-776G>C

Links:

dbSNP: rs1064795132

NCBI 1000 Genomes Browser:

rs1064795132

Molecular consequence:

NM_000314.8:c.-777G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001304717.5:c.-257G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001304718.2:c.-1481G>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
SCV000570635	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 10, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570635

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 10, 2016)

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, SCV000570635.1

#	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.-776G>C, and describes a nucleotide substitution 776 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in braces, is CCGG[G/C]CTCA. This variant, also called c.-775G>C 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.-776G>C 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: May 1, 2024

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