NM_000455.4(STK11):c.1150C>T (p.Arg384Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000218896.2

Allele description [Variation Report for NM_000455.4(STK11):c.1150C>T (p.Arg384Trp)]

NM_000455.4(STK11):c.1150C>T (p.Arg384Trp)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.4(STK11):c.1150C>T (p.Arg384Trp)
HGVS:
  • NC_000019.10:g.1226495C>T
  • NG_007460.2:g.42089C>T
  • NM_000455.4:c.1150C>T
  • NP_000446.1:p.Arg384Trp
  • LRG_319t1:c.1150C>T
  • LRG_319:g.42089C>T
  • LRG_319p1:p.Arg384Trp
  • NC_000019.9:g.1226494C>T
Protein change:
R384W
Links:
dbSNP: rs752015385
NCBI 1000 Genomes Browser:
rs752015385
Molecular consequence:
  • NM_000455.4:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279188GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279188.8

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

Description

This variant is denoted STK11 c.1150C>T at the cDNA level, p.Arg384Trp (R384W) at the protein level, and results in the change of an Arginine to a Tryptophan (CGG>TGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. STK11 Arg384Trp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Arginine and Tryptophan differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. STK11 Arg384Trp occurs at a position that is not conserved across species and is not located in a known functional domain (Hearle 2006, UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether STK11 Arg384Trp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Aug 11, 2021

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