NM_000314.8(PTEN):c.740T>G (p.Leu247Ter) AND Ovarian neoplasm

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000785571.2

Allele description [Variation Report for NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)]

NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)

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.740T>G (p.Leu247Ter)

HGVS:

NC_000010.11:g.87957958T>G
NG_007466.2:g.99520T>G
NM_000314.8:c.740T>GMANE SELECT
NM_001304717.5:c.1259T>G
NM_001304718.2:c.149T>G
NP_000305.3:p.Leu247Ter
NP_001291646.4:p.Leu420Ter
NP_001291647.1:p.Leu50Ter
LRG_311t1:c.740T>G
LRG_311:g.99520T>G
NC_000010.10:g.89717715T>G
NM_000314.4:c.740T>G
NM_000314.6:c.740T>G

Protein change:

L247*

Links:

dbSNP: rs1057519368

NCBI 1000 Genomes Browser:

rs1057519368

Molecular consequence:

NM_000314.8:c.740T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001304717.5:c.1259T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001304718.2:c.149T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924143	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	no assertion criteria provided	Pathogenic (Dec 1, 2018)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924143

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

no assertion criteria provided

Pathogenic
(Dec 1, 2018)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV000924143.1

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

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

Last Updated: Jul 15, 2024

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