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NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 13, 2023
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:
RCV000509169.4

Allele description [Variation Report for NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)]

NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
Other names:
p.R409G:CGG>GGG
HGVS:
  • NC_000019.10:g.1226570C>G
  • NG_007460.2:g.42164C>G
  • NM_000455.5:c.1225C>GMANE SELECT
  • NP_000446.1:p.Arg409Gly
  • NP_000446.1:p.Arg409Gly
  • LRG_319t1:c.1225C>G
  • LRG_319:g.42164C>G
  • LRG_319p1:p.Arg409Gly
  • NC_000019.9:g.1226569C>G
  • NM_000455.4:c.1225C>G
  • p.R409G
Protein change:
R409G
Links:
dbSNP: rs368466538
NCBI 1000 Genomes Browser:
rs368466538
Molecular consequence:
  • NM_000455.5:c.1225C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000211727GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 13, 2023) 		germlineclinical testing

Citation Link,

SCV000606988GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Caucasians MedGen:C0043157unknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GeneDx, SCV000211727.15

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28900777)

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

From GenomeConnect, ClinGen, SCV000606988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasians MedGen:C0043157not providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Oct 8, 2024