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NM_001126049.2(KLLN):c.-990C>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV000579025.10

Allele description [Variation Report for NM_001126049.2(KLLN):c.-990C>G]

NM_001126049.2(KLLN):c.-990C>G

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_001126049.2(KLLN):c.-990C>G
HGVS:
  • NC_000010.11:g.87863477G>C
  • NG_007466.2:g.5040G>C
  • NG_033079.1:g.4961C>G
  • NG_183718.1:g.198G>C
  • NM_000314.6:c.-992G>C
  • NM_001126049.2:c.-990C>GMANE SELECT
  • NM_001304717.4:c.-473G>C
  • NM_001304718.1:c.-1697G>C
  • LRG_1087t1:c.-990C>G
  • LRG_311t1:c.-992G>C
  • LRG_1087:g.4961C>G
  • LRG_311:g.5040G>C
  • NC_000010.10:g.89623234G>C
  • NM_000314.4:c.-992G>C
Links:
dbSNP: rs972890157
NCBI 1000 Genomes Browser:
rs972890157
Molecular consequence:
  • NM_001126049.2:c.-990C>G - 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
SCV000680800GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 13, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680800.2

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

Description

This variant is denoted PTEN c.-993G>C, and describes a nucleotide substitution 993 base pairs upstream of the ATG translational start site in the PTEN core promoter region. The surrounding sequence, with the base that is substituted in braces, is GCTC[G/C]CCTC. This variant, also called c.-992G>C using alternate numbering, has not been published in the literature to our knowledge. This variant occurs within a region of the PTEN promoter (c.-798 to c.-1238) in which variants have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclear whether PTEN c.-993G>C is pathogenic or benign.

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

Last Updated: Aug 18, 2024