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NM_000314.7(PTEN):c.-933G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 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:
RCV001818393.12

Allele description [Variation Report for NM_000314.7(PTEN):c.-933G>A]

NM_000314.7(PTEN):c.-933G>A

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.7(PTEN):c.-933G>A
HGVS:
  • NC_000010.11:g.87863536G>A
  • NG_007466.2:g.5099G>A
  • NG_033079.1:g.4902C>T
  • NG_183718.1:g.257G>A
  • NM_000314.4:c.-933G>A
  • NM_000314.6:c.-933G>A
  • NM_001304717.4:c.-414G>A
  • NM_001304718.1:c.-1638G>A
  • LRG_311t1:c.-933G>A
  • LRG_1087:g.4902C>T
  • LRG_311:g.5099G>A
  • NC_000010.10:g.89623293G>A
  • NM_000314.7:c.-933G>A
Links:
dbSNP: rs786203419
NCBI 1000 Genomes Browser:
rs786203419

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002066771Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 29, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genetic Services Laboratory, University of Chicago, SCV002066771.1

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

Description

DNA sequence analysis of the PTEN gene demonstrated a sequence change in the 5' untranslated region (5'UTR), c.-933G>A. This change does not appear to have been previously described in patients with PTEN-related disorders and has been described in the gnomAD with a low population frequency of 0.0096%, (dbSNP rs889785939). It is possible that this sequence change represents a benign sequence change in the PTEN gene that has not been identified to date. Other variants affecting this region of the gene have been reported in association with Cowden disease (PMID: 12844284). The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.

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

Last Updated: Nov 3, 2024