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NM_000314.6(PTEN):c.-936G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2016
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:
RCV000588590.10

Allele description [Variation Report for NM_000314.6(PTEN):c.-936G>A]

NM_000314.6(PTEN):c.-936G>A

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.-936G>A
HGVS:
  • NC_000010.11:g.87863533G>A
  • NG_007466.2:g.5096G>A
  • NG_033079.1:g.4905C>T
  • NG_183718.1:g.254G>A
  • NM_000314.4:c.-936G>A
  • NM_000314.6:c.-936G>A
  • NM_001126049.2:c.-1046C>TMANE SELECT
  • NM_001304717.4:c.-417G>A
  • NM_001304718.1:c.-1641G>A
  • LRG_1087t1:c.-1046C>T
  • LRG_311t1:c.-936G>A
  • LRG_1087:g.4905C>T
  • LRG_311:g.5096G>A
  • NC_000010.10:g.89623290G>A
Links:
dbSNP: rs1394545143
NCBI 1000 Genomes Browser:
rs1394545143
Molecular consequence:
  • NM_001126049.2:c.-1046C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696552Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 20, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696552.1

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

Description

Variant summary: The PTEN variant c.-936G>A (also known as c.-937G>A) involves the alteration of a non-conserved nucleotide in the 5'-UTR. One in silico tool predicts a damaging outcome for this variant. There is no coverage at this position in control databases (ExAC, ESP, 1000G). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Nov 3, 2024