NM_000314.8(PTEN):c.740T>G (p.Leu247Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2015
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:: RCV000491091.3

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:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579990	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 23, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579990

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 23, 2015)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000579990.6

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

Description

The p.L247* pathogenic mutation (also known as c.740T>G) located in coding exon 7 of the PTEN gene, results from a T to G substitution at nucleotide position 740. This changes the amino acid from a leucine to a stop codon within coding exon 7. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Jul 15, 2024

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