NM_000455.5(STK11):c.1044C>G (p.Asp348Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 21, 2019
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:: RCV002397903.2

Allele description [Variation Report for NM_000455.5(STK11):c.1044C>G (p.Asp348Glu)]

NM_000455.5(STK11):c.1044C>G (p.Asp348Glu)

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.1044C>G (p.Asp348Glu)

HGVS:

NC_000019.10:g.1223108C>G
NG_007460.2:g.38702C>G
NM_000455.5:c.1044C>GMANE SELECT
NP_000446.1:p.Asp348Glu
LRG_319t1:c.1044C>G
LRG_319:g.38702C>G
NC_000019.9:g.1223107C>G
NM_000455.4:c.1044C>G

Protein change:

D348E

Links:

dbSNP: rs778274196

NCBI 1000 Genomes Browser:

rs778274196

Molecular consequence:

NM_000455.5:c.1044C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

RecName: Full=LIM domain-binding protein 1; Short=LDB-1; AltName: Full=Carboxyl-...
RecName: Full=LIM domain-binding protein 1; Short=LDB-1; AltName: Full=Carboxyl-terminal LIM domain-binding protein 2; Short=CLIM-2; AltName: Full=LIM domain-binding factor CLIM2; Short=mLdb1; AltName: Full=Nuclear LIM interactor
gi|158518422|sp|P70662.2|LDB1_MOUSE

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002705116	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 21, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002705116

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 21, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002705116.2

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

Description

The p.D348E variant (also known as c.1044C>G), located in coding exon 8 of the STK11 gene, results from a C to G substitution at nucleotide position 1044. The aspartic acid at codon 348 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine