NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu) AND Esophageal squamous cell carcinoma, somatic

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000004468.4

Allele description [Variation Report for NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)]

NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)

Gene:

LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)

HGVS:

NC_000008.11:g.20253576T>C
NG_015834.2:g.6717A>G
NG_015834.3:g.55406A>G
NM_001362884.2:c.355A>G
NM_021020.5:c.355A>GMANE SELECT
NP_001349813.1:p.Lys119Glu
NP_066300.1:p.Lys119Glu
NC_000008.10:g.20111087T>C
Q9Y250:p.Lys119Glu

Protein change:

K119E; LYS119GLU

Links:

UniProtKB: Q9Y250#VAR_018275; OMIM: 606551.0002; dbSNP: rs119473032

NCBI 1000 Genomes Browser:

rs119473032

Molecular consequence:

NM_001362884.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021020.5:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Esophageal squamous cell carcinoma, somatic
Identifiers:: MedGen: C4016881

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024641	OMIM	no assertion criteria provided	Pathogenic (Mar 30, 1999)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024641

OMIM

no assertion criteria provided

Pathogenic
(Mar 30, 1999)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors.

Ishii H, Baffa R, Numata SI, Murakumo Y, Rattan S, Inoue H, Mori M, Fidanza V, Alder H, Croce CM.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3928-33.

PubMed [citation]

PMID:: 10097140
PMCID:: PMC22397

Details of each submission

From OMIM, SCV000024641.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Ishii et al. (1999) demonstrated a somatic mutation in esophageal squamous cell carcinoma (see 133239): AAG (lys) to GAG (glu) at codon 119 of the LZTS1 gene (K119E). An LOH study indicated that the normal allele had been lost by deletion.

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

Last Updated: Dec 11, 2022

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