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NM_001126049.2(KLLN):c.-938A>T AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 6, 2024
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:
RCV000169863.13

Allele description [Variation Report for NM_001126049.2(KLLN):c.-938A>T]

NM_001126049.2(KLLN):c.-938A>T

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.-938A>T
HGVS:
  • NC_000010.11:g.87863425T>A
  • NG_007466.2:g.4988T>A
  • NG_033079.1:g.5013A>T
  • NG_183718.1:g.146T>A
  • NM_001126049.2:c.-938A>TMANE SELECT
  • LRG_1087t1:c.-938A>T
  • LRG_311t1:c.-1044T>A
  • LRG_1087:g.5013A>T
  • LRG_311:g.4988T>A
  • NC_000010.10:g.89623182T>A
  • NM_000314.4:c.-1044T>A
  • c.-1045T>A[hg19]
Links:
dbSNP: rs786204921
NCBI 1000 Genomes Browser:
rs786204921
Molecular consequence:
  • NM_001126049.2:c.-938A>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
SCV000222191GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 6, 2024) 		germlineclinical testing

Citation Link,

SCV001749646GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GeneDx, SCV000222191.6

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Other regulatory variants have been reported in the Human Gene Mutation Database in association with PTEN-related disorders (HGMD); Has not been previously published as pathogenic or benign to our knowledge; Also known as c.-1044T>A

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

From GenomeConnect - Invitae Patient Insights Network, SCV001749646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-06-2016 by Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Oct 20, 2024