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NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2020
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:
RCV002251985.9

Allele description [Variation Report for NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)]

NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)

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.882T>G (p.Ser294Arg)
Other names:
p.S294R:AGT>AGG; NM_000314.6(PTEN):c.882T>G; NM_000314.8(PTEN):c.882T>G
HGVS:
  • NC_000010.11:g.87960974T>G
  • NG_007466.2:g.102536T>G
  • NM_000314.8:c.882T>GMANE SELECT
  • NM_001304717.5:c.1401T>G
  • NM_001304718.2:c.291T>G
  • NP_000305.3:p.Ser294Arg
  • NP_001291646.4:p.Ser467Arg
  • NP_001291647.1:p.Ser97Arg
  • LRG_311t1:c.882T>G
  • LRG_311:g.102536T>G
  • NC_000010.10:g.89720731T>G
  • NM_000314.4:c.882T>G
  • NM_000314.6:c.882T>G
  • NM_000314.7:c.882T>G
  • p.S294R
Protein change:
S294R
Links:
dbSNP: rs143335584
NCBI 1000 Genomes Browser:
rs143335584
Molecular consequence:
  • NM_000314.8:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.291T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523647Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 7, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523647.1

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

Description

ACMG classification criteria: PP2, BP4

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

Last Updated: Nov 3, 2024