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NM_000314.8(PTEN):c.1190A>G (p.His397Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2015
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:
RCV000217559.1

Allele description [Variation Report for NM_000314.8(PTEN):c.1190A>G (p.His397Arg)]

NM_000314.8(PTEN):c.1190A>G (p.His397Arg)

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.1190A>G (p.His397Arg)
HGVS:
  • NC_000010.11:g.87965450A>G
  • NG_007466.2:g.107012A>G
  • NM_000314.8:c.1190A>GMANE SELECT
  • NM_001304717.5:c.1709A>G
  • NM_001304718.2:c.599A>G
  • NP_000305.3:p.His397Arg
  • NP_001291646.4:p.His570Arg
  • NP_001291647.1:p.His200Arg
  • LRG_311t1:c.1190A>G
  • LRG_311:g.107012A>G
  • NC_000010.10:g.89725207A>G
  • NM_000314.4:c.1190A>G
Protein change:
H200R
Links:
dbSNP: rs876661021
NCBI 1000 Genomes Browser:
rs876661021
Molecular consequence:
  • NM_000314.8:c.1190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.599A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279215GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 28, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279215.9

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

Description

This variant is denoted PTEN c.1190A>G at the cDNA level, p.His397Arg (H397R) at the protein level, and results in the change of a Histidine to an Arginine (CAT>CGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PTEN His397Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Histidine and Arginine share similar properties, this is considered a conservative amino acid substitution. PTEN His397Arg occurs at a position that is conserved across species and is located in the C-terminal domain (Nguyen 2013). Based on currently available evidence, it is unclear whether PTEN His397Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024