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NM_000455.5(STK11):c.790_793del (p.Phe264fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 10, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000414059.9

Allele description [Variation Report for NM_000455.5(STK11):c.790_793del (p.Phe264fs)]

NM_000455.5(STK11):c.790_793del (p.Phe264fs)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.790_793del (p.Phe264fs)
HGVS:
  • NC_000019.10:g.1221268_1221271del
  • NG_007460.2:g.36862_36865del
  • NM_000455.5:c.790_793delMANE SELECT
  • NP_000446.1:p.Phe264fs
  • NP_000446.1:p.Phe264fs
  • LRG_319t1:c.790_793del
  • LRG_319:g.36862_36865del
  • LRG_319p1:p.Phe264fs
  • NC_000019.9:g.1221264_1221267del
  • NC_000019.9:g.1221267_1221270del
  • NM_000455.4:c.790_793del
  • NM_000455.4:c.790_793delTTTG
  • p.Phe264fs
Protein change:
F264fs
Links:
dbSNP: rs121913320
NCBI 1000 Genomes Browser:
rs121913320
Molecular consequence:
  • NM_000455.5:c.790_793del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490836GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Apr 10, 2019)
germlineclinical testing

Citation Link,

SCV000884613ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Pathogenic
(Sep 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490836.2

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

Description

Frameshift variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12552571, 9809980, 16287113, 23718779, 17404884, 19727776, 17010210, 25742471, 11103790, 15863673)

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024