• replaced

NM_000314.7(PTEN):c.42G>A (p.Arg14=) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000480384.2

Allele description

NM_000314.7(PTEN):c.42G>A (p.Arg14=)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.7(PTEN):c.42G>A (p.Arg14=)
HGVS:
  • NC_000010.11:g.87864511G>A
  • NG_007466.2:g.6073G>A
  • NG_033079.1:g.3927C>T
  • NM_000314.7:c.42G>A
  • NM_001304717.5:c.561G>A
  • NM_001304718.2:c.-664G>A
  • NP_000305.3:p.Arg14=
  • NP_001291646.4:p.Arg187=
  • LRG_311t1:c.42G>A
  • LRG_1087:g.3927C>T
  • LRG_311:g.6073G>A
  • NC_000010.10:g.89624268G>A
  • NM_000314.4:c.42G>A
Links:
dbSNP: rs1064794513
NCBI 1000 Genomes Browser:
rs1064794513
Molecular consequence:
  • NM_001304718.2:c.-664G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.7:c.42G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001304717.5:c.561G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000569346GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569346.3

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

Description

This variant is denoted PTEN c.42G>A at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 14, and is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. PTEN c.42G>A 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 nucleotide which is altered, a guanine (G) at base 42, is conserved across species. Based on currently available information, it is unclear whether PTEN c.42G>A is pathogenic or benign. 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: May 26, 2021

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