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NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2018
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:
RCV001000705.8

Allele description [Variation Report for NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)]

NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)

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.166T>A (p.Phe56Ile)
HGVS:
  • NC_000010.11:g.87925514T>A
  • NG_007466.2:g.67076T>A
  • NM_000314.8:c.166T>AMANE SELECT
  • NM_001304717.5:c.685T>A
  • NM_001304718.2:c.-541-5532T>A
  • NP_000305.3:p.Phe56Ile
  • NP_001291646.4:p.Phe229Ile
  • LRG_311t1:c.166T>A
  • LRG_311:g.67076T>A
  • NC_000010.10:g.89685271T>A
  • NM_000314.4:c.166T>A
Protein change:
F229I
Links:
dbSNP: rs1589640376
NCBI 1000 Genomes Browser:
rs1589640376
Molecular consequence:
  • NM_001304718.2:c.-541-5532T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000314.8:c.166T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.685T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001157746ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jul 11, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157746.1

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

Description

The PTEN c.166T>A; p.Phe56Ile variant, to our knowledge, has not been reported in the medical literature or gene-specific databases in any individuals affected with a PTEN-related disorder. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 56 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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

Last Updated: Mar 4, 2023