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NM_000455.5(STK11):c.1271_1272delinsAG (p.Ile424Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 16, 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:
RCV000481685.1

Allele description [Variation Report for NM_000455.5(STK11):c.1271_1272delinsAG (p.Ile424Lys)]

NM_000455.5(STK11):c.1271_1272delinsAG (p.Ile424Lys)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.1271_1272delinsAG (p.Ile424Lys)
HGVS:
  • NC_000019.10:g.1226616_1226617delinsAG
  • NG_007460.2:g.42210_42211delinsAG
  • NM_000455.5:c.1271_1272delinsAGMANE SELECT
  • NP_000446.1:p.Ile424Lys
  • LRG_319:g.42210_42211delinsAG
  • NC_000019.9:g.1226615_1226616delinsAG
  • NM_000455.4:c.1271_1272delTCinsAG
Protein change:
I424K
Links:
dbSNP: rs1064795504
NCBI 1000 Genomes Browser:
rs1064795504
Molecular consequence:
  • NM_000455.5:c.1271_1272delinsAG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000571376GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Aug 16, 2016)
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, SCV000571376.4

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

Description

This variant is denoted STK11 c.1271_1272delTCinsAG at the cDNA level and p.Ile424Lys (I424K) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is AAGA[TC][AG]CGCC. This in-frame deletion and insertion occurs on the same allele (in cis) and results in the missense change of an Isoleucine to a Lysine (ATC>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Neither STK11 c.1271_1272delTCinsAG nor STK11 Ile424Lys (by this or an alternate nucleotide change) was observed in approximately 5,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Isoleucine and Lysine share similar properties, this is considered a conservative amino acid substitution. STK11 Ile424Lys occurs at a position that is not conserved and is not located in a known functional domain (Hearle 2006). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, we consider STK11 Ile424Lys to be a variant of uncertain significance.

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

Last Updated: Nov 5, 2022