NM_000314.8(PTEN):c.799_800del (p.Lys267fs) AND Cowden syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 2023
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:: RCV003452546.1

Allele description [Variation Report for NM_000314.8(PTEN):c.799_800del (p.Lys267fs)]

NM_000314.8(PTEN):c.799_800del (p.Lys267fs)

Gene:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000314.8(PTEN):c.799_800del (p.Lys267fs)

HGVS:

NC_000010.11:g.87958017_87958018del
NG_007466.2:g.99579_99580del
NM_000314.8:c.799_800delMANE SELECT
NM_001304717.5:c.1318_1319del
NM_001304718.2:c.208_209del
NP_000305.3:p.Lys267Glyfs
NP_000305.3:p.Lys267fs
NP_001291646.4:p.Lys440fs
NP_001291647.1:p.Lys70fs
LRG_311t1:c.799_800del
LRG_311:g.99579_99580del
LRG_311p1:p.Lys267Glyfs
NC_000010.10:g.89717774_89717775del
NM_000314.4:c.799_800delAA

Protein change:

K267fs

Molecular consequence:

NM_000314.8:c.799_800del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304717.5:c.1318_1319del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304718.2:c.208_209del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cowden syndrome 1 (CWS1)
Identifiers:: MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004189702	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 29, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189702

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Sep 29, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004189702.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Dec 30, 2023

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