NC_000010.11:g.87863572C>T AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 20, 2020
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:: RCV001352683.1

Allele description [Variation Report for NC_000010.11:g.87863572C>T]

NC_000010.11:g.87863572C>T

Genes:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NC_000010.11:g.87863572C>T

HGVS:

NC_000010.11:g.87863572C>T
NG_007466.2:g.5135C>T
NG_033079.1:g.4866G>A
LRG_1087:g.4866G>A
LRG_311:g.5135C>T
NC_000010.10:g.89623329C>T

Links:

dbSNP: rs587781981

NCBI 1000 Genomes Browser:

rs587781981

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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TBXAS1 [Ochotona princeps]
TBXAS1 [Ochotona princeps]
Gene ID:101534820

Gene
GYG1 [Ursus arctos]
GYG1 [Ursus arctos]
Gene ID:113254042

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547262	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 20, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001547262

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 20, 2020)

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, SCV001547262.2

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

Description

Describes a nucleotide substitution 898 basepairs upstream of the ATG translational start site in the PTEN promoter region; Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003); Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant; Also known as c.-897C>T

#	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 14, 2023

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