NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000571019.1

Allele description [Variation Report for NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)]

NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)

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.698G>A (p.Arg233Gln)
Other names:
NM_000314.6(PTEN):c.698G>A
HGVS:
  • NC_000010.11:g.87957916G>A
  • NG_007466.2:g.99478G>A
  • NM_000314.8:c.698G>AMANE SELECT
  • NM_001304717.5:c.1217G>A
  • NM_001304718.2:c.107G>A
  • NP_000305.3:p.Arg233Gln
  • NP_001291646.4:p.Arg406Gln
  • NP_001291647.1:p.Arg36Gln
  • LRG_311t1:c.698G>A
  • LRG_311:g.99478G>A
  • NC_000010.10:g.89717673G>A
  • NM_000314.4:c.698G>A
Protein change:
R233Q
Links:
dbSNP: rs770025422
NCBI 1000 Genomes Browser:
rs770025422
Molecular consequence:
  • NM_000314.8:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000663582Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 29, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000663582.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R233Q variant (also known as c.698G>A), located in coding exon 7 of the PTEN gene, results from a G to A substitution at nucleotide position 698. The arginine at codon 233 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 250000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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