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NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3]) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2021
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:
RCV000483610.11

Allele description [Variation Report for NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])]

NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])

Genes:
LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [Gene]
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])
HGVS:
  • NC_000019.10:g.1223109GAGGAC[3]
  • NG_007460.2:g.38703GAGGAC[3]
  • NM_000455.4:c.1051_1056dupGAGGAC
  • NM_000455.5:c.1045GAGGAC[3]MANE SELECT
  • NP_000446.1:p.349ED[3]
  • LRG_319t1:c.1051_1056dup
  • LRG_319:g.38703GAGGAC[3]
  • NC_000019.9:g.1223103_1223104insGGACGA
  • NC_000019.9:g.1223108GAGGAC[3]
  • NM_000455.4:c.1045_1050dupGAGGAC
  • NM_000455.4:c.1051_1056dup
  • NM_000455.4:c.1051_1056dupGAGGAC
Links:
dbSNP: rs762810203
NCBI 1000 Genomes Browser:
rs762810203
Molecular consequence:
  • NM_000455.5:c.1045GAGGAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000572378GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572378.6

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

Description

In-frame insertion of 2 amino acids; Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28900777)

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

Last Updated: Nov 3, 2024