NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Oct 1, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000656982.26

Allele description [Variation Report for NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)]

NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)

Genes:

LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [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.1027G>A (p.Asp343Asn)

Other names:

p.D343N:GAC>AAC

HGVS:

NC_000019.10:g.1223091G>A
NG_007460.2:g.38685G>A
NM_000455.5:c.1027G>AMANE SELECT
NP_000446.1:p.Asp343Asn
NP_000446.1:p.Asp343Asn
LRG_319t1:c.1027G>A
LRG_319:g.38685G>A
LRG_319p1:p.Asp343Asn
NC_000019.9:g.1223090G>A
NM_000455.4:c.1027G>A
p.D343N

Protein change:

D343N

Links:

dbSNP: rs368547224

NCBI 1000 Genomes Browser:

rs368547224

Molecular consequence:

NM_000455.5:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211723	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 1, 2023)	germline	clinical testing	Citation Link,
SCV000602203	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 9, 2023)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 29325035, 30287823, 27043212, 26354930, 25742471, 33471991, 26580448, 36243179, 26467025
SCV004139041	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Oct 1, 2023)	germline	clinical testing	Citation Link,
SCV004224518	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 23, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30287823, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer.

Guibert N, Hu Y, Feeney N, Kuang Y, Plagnol V, Jones G, Howarth K, Beeler JF, Paweletz CP, Oxnard GR.

Ann Oncol. 2018 Apr 1;29(4):1049-1055. doi: 10.1093/annonc/mdy005.

PubMed [citation]

PMID:: 29325035
PMCID:: PMC5913609

Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing.

Hiemenz MC, Kadauke S, Lieberman DB, Roth DB, Zhao J, Watt CD, Daber RD, Morrissette JJ.

PLoS One. 2016;11(4):e0152851. doi: 10.1371/journal.pone.0152851.

PubMed [citation]

PMID:: 27043212
PMCID:: PMC4820127

See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000211723.18

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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; Observed in individuals with breast cancer or medulloblastoma and also in unaffected controls (Zhang et al., 2015; Momozawa et al., 2018; Dorling et al., 2021); This variant is associated with the following publications: (PMID: 27043212, 26354930, 25742471, 26580448, 28492532, 30287823, 29106415, 29325035, 34746883, 33471991, 28900777, 30883245)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602203.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004139041.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

STK11: PM2:Supporting

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224518.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

BP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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