NM_000455.5(STK11):c.580G>T (p.Asp194Tyr) AND Melanoma, cutaneous malignant, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 4, 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:: RCV000007876.8

Allele description [Variation Report for NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)]

NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)

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.580G>T (p.Asp194Tyr)

HGVS:

NC_000019.10:g.1220488G>T
NG_007460.2:g.36082G>T
NM_000455.5:c.580G>TMANE SELECT
NP_000446.1:p.Asp194Tyr
LRG_319t1:c.580G>T
LRG_319:g.36082G>T
NC_000019.9:g.1220487G>T
NM_000455.4:c.580G>T
Q15831:p.Asp194Tyr

Protein change:

D194Y; ASP194TYR

Links:

UniProtKB: Q15831#VAR_033141; OMIM: 602216.0013; dbSNP: rs121913315

NCBI 1000 Genomes Browser:

rs121913315

Molecular consequence:

NM_000455.5:c.580G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Melanoma, cutaneous malignant, susceptibility to, 1 (CMM1)
Synonyms:: Cutaneous malignant melanoma 1; MELANOMA, MALIGNANT, SOMATIC; MELANOMA, MALIGNANT; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007963; MedGen: C1835047; Orphanet: 618; OMIM: 155600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028081	OMIM	no assertion criteria provided	Pathogenic (Mar 4, 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

SCV000028081

OMIM

no assertion criteria provided

Pathogenic
(Mar 4, 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

Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.

Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J.

Oncogene. 1999 Mar 4;18(9):1777-80.

PubMed [citation]

PMID:: 10208439

Details of each submission

From OMIM, SCV000028081.4

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

Description

In a sample of cell lines and tumor specimens from 35 patients with sporadic malignant melanoma (see 155600), Guldberg et al. (1999) identified 2 somatic mutations, 1 of which, an asp194-to-tyr substitution, affected an invariant residue in the catalytic subunit of STK11.

#	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 24, 2023

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