NM_000314.8(PTEN):c.209+5G>C AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 10, 2019
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:: RCV001587366.3

Allele description [Variation Report for NM_000314.8(PTEN):c.209+5G>C]

NM_000314.8(PTEN):c.209+5G>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.209+5G>C

HGVS:

NC_000010.11:g.87925562G>C
NG_007466.2:g.67124G>C
NM_000314.8:c.209+5G>CMANE SELECT
NM_001304717.5:c.729+5G>C
NM_001304718.2:c.-541-5484G>C
LRG_311:g.67124G>C
NC_000010.10:g.89685319G>C

Links:

dbSNP: rs1114167650

NCBI 1000 Genomes Browser:

rs1114167650

Molecular consequence:

NM_000314.8:c.209+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001304717.5:c.729+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001304718.2:c.-541-5484G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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BX851151 Wellcome CRC pRN3 oocyte Xenopus laevis cDNA clone IMAGp998A108393; IMA...
BX851151 Wellcome CRC pRN3 oocyte Xenopus laevis cDNA clone IMAGp998A108393; IMAGE:3436689 5', mRNA sequence
gi|39739441|gnl|dbEST|20906643|emb| 151.1|

Nucleotide
Xenopus laevis mRNA for poly(ADP-ribose) polymerase
Xenopus laevis mRNA for poly(ADP-ribose) polymerase
gi|287584|dbj|D14667.1|XELPADPRP

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001814924	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 10, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001814924

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 10, 2019)

germline

clinical testing

Citation Link

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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, SCV001814924.1

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

Description

Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18626099, 11146448)

#	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: Sep 29, 2024

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