NM_000314.8(PTEN):c.796A>T (p.Lys266Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 26, 2021
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:: RCV002422744.2

Allele description [Variation Report for NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)]

NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)

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.796A>T (p.Lys266Ter)

HGVS:

NC_000010.11:g.87958014A>T
NG_007466.2:g.99576A>T
NM_000314.8:c.796A>TMANE SELECT
NM_001304717.5:c.1315A>T
NM_001304718.2:c.205A>T
NP_000305.3:p.Lys266Ter
NP_001291646.4:p.Lys439Ter
NP_001291647.1:p.Lys69Ter
LRG_311t1:c.796A>T
LRG_311:g.99576A>T
NC_000010.10:g.89717771A>T
NM_000314.4:c.796A>T

Protein change:

K266*

Links:

dbSNP: rs1554825260

NCBI 1000 Genomes Browser:

rs1554825260

Molecular consequence:

NM_000314.8:c.796A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304717.5:c.1315A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304718.2:c.205A>T - 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

Recent activity

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poly(rC)-binding protein 2 isoform b [Homo sapiens]
poly(rC)-binding protein 2 isoform b [Homo sapiens]
gi|14141166|ref|NP_114366.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002678023	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002678023

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 26, 2021)

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

Details of each submission

From Ambry Genetics, SCV002678023.2

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

Description

The p.K266* pathogenic mutation (also known as c.796A>T), located in coding exon 7 of the PTEN gene, results from an A to T substitution at nucleotide position 796. This changes the amino acid from a lysine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Sep 29, 2024

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