U.S. flag

An official website of the United States government

NM_000314.8(PTEN):c.1182A>T (p.Glu394Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 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:
RCV003308168.2

Allele description [Variation Report for NM_000314.8(PTEN):c.1182A>T (p.Glu394Asp)]

NM_000314.8(PTEN):c.1182A>T (p.Glu394Asp)

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.1182A>T (p.Glu394Asp)
HGVS:
  • NC_000010.11:g.87965442A>T
  • NG_007466.2:g.107004A>T
  • NM_000314.8:c.1182A>TMANE SELECT
  • NM_001304717.5:c.1701A>T
  • NM_001304718.2:c.591A>T
  • NP_000305.3:p.Glu394Asp
  • NP_000305.3:p.Glu394Asp
  • NP_001291646.4:p.Glu567Asp
  • NP_001291647.1:p.Glu197Asp
  • LRG_311t1:c.1182A>T
  • LRG_311:g.107004A>T
  • LRG_311p1:p.Glu394Asp
  • NC_000010.10:g.89725199A>T
  • NM_000314.4:c.1182A>T
Protein change:
E197D
Molecular consequence:
  • NM_000314.8:c.1182A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1701A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.591A>T - missense variant - [Sequence Ontology: SO:0001583]

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

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
SCV004009200Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 17, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

Mighell TL, Evans-Dutson S, O'Roak BJ.

Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26.

PubMed [citation]
PMID:
29706350
PMCID:
PMC5986715

Details of each submission

From Ambry Genetics, SCV004009200.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.E394D variant (also known as c.1182A>T), located in coding exon 9 of the PTEN gene, results from an A to T substitution at nucleotide position 1182. The glutamic acid at codon 394 is replaced by aspartic acid, an amino acid with highly similar properties. In a massively parallel functional assay using a humanized yeast model, lipid phosphatase activity for this variant was functionally deficient (Mighell TL et al. Am J Hum Genet, 2018 May;102:943-955). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024