U.S. flag

An official website of the United States government

NM_000314.6(PTEN):c.865A>G (p.Lys289Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Aug 12, 2014
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000132384.3

Allele description

NM_000314.6(PTEN):c.865A>G (p.Lys289Glu)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.865A>G (p.Lys289Glu)
Other names:
p.K289E:AAA>GAA
HGVS:
  • NC_000010.11:g.87960957A>G
  • NG_007466.2:g.102519A>G
  • NM_000314.6:c.865A>G
  • NP_000305.3:p.Lys289Glu
  • LRG_311t1:c.865A>G
  • LRG_311:g.102519A>G
  • LRG_311p1:p.Lys289Glu
  • NC_000010.10:g.89720714A>G
  • NM_000314.4:c.865A>G
  • P60484:p.Lys289Glu
  • p.K289E
Protein change:
K289E
Links:
UniProtKB: P60484#VAR_008741; dbSNP: rs562015640
GMAF:
0.0002(G), 562015640
NCBI 1000 Genomes Browser:
rs562015640
Allele Frequency:
0.00002(G)
Molecular consequence:
  • NM_000314.6:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187475Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely pathogenic
(Apr 3, 2014) 		germlineclinical testing

Citation Link,

SCV000222226GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 12, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000187475.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From GeneDx, SCV000222226.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The K289E variant has been reported in two relatives diagnosed with Cowden syndrome (Chi et al., 1998). In vitro functional studies demonstrated that the presence of the K289E variant results in defective nuclear localization of the protein (Trotman et al., 2007). The K289E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in PTEN panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 22, 2017