NM_000455.4(STK11):c.403G>C (p.Gly135Arg) AND Cutaneous malignant melanoma 1

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007883.9

Allele description [Variation Report for NM_000455.4(STK11):c.403G>C (p.Gly135Arg)]

NM_000455.4(STK11):c.403G>C (p.Gly135Arg)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.4(STK11):c.403G>C (p.Gly135Arg)
HGVS:
  • NC_000019.10:g.1219352G>C
  • NG_007460.2:g.34946G>C
  • NM_000455.4:c.403G>C
  • NP_000446.1:p.Gly135Arg
  • LRG_319t1:c.403G>C
  • LRG_319:g.34946G>C
  • LRG_319p1:p.Gly135Arg
  • NC_000019.9:g.1219351G>C
  • NG_007460.1:g.18554G>C
  • Q15831:p.Gly135Arg
Protein change:
G135R; GLY135ARG
Links:
UniProtKB: Q15831#VAR_033139; OMIM: 602216.0020; dbSNP: 137853081
NCBI 1000 Genomes Browser:
rs137853081
Molecular consequence:
  • NM_000455.4:c.403G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cutaneous malignant melanoma 1 (CMM1)
Synonyms:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; MELANOMA, MALIGNANT, SOMATIC; MELANOMA, MALIGNANT; See all synonyms [MedGen]
Identifiers:
Gene: 1243; MedGen: C1835047; Orphanet: 618; OMIM: 155600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028088OMIMno assertion criteria providedPathogenic
(Apr 1, 1999)
somaticliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas.

Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, Bodmer W, Tomlinson I.

J Invest Dermatol. 1999 Apr;112(4):509-11.

PubMed [citation]
PMID:
10201537

Details of each submission

From OMIM, SCV000028088.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a primary melanoma (see 155600), Rowan et al. (1999) found a somatic gly135-to-arg (G135R) missense change in the STK11 protein. The mutation was found in heterozygous state.

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

Last Updated: Sep 21, 2017