NM_002524.4(NRAS):c.101C>T (p.Pro34Leu) AND Epidermal nevus

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2012)

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:
RCV000032848.4

Allele description [Variation Report for NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)]

NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)
HGVS:
  • NC_000001.11:g.114716060G>A
  • NG_007572.1:g.5835C>T
  • NM_002524.4:c.101C>T
  • NP_002515.1:p.Pro34Leu
  • LRG_92t1:c.101C>T
  • LRG_92:g.5835C>T
  • LRG_92p1:p.Pro34Leu
  • NC_000001.10:g.115258681G>A
  • NM_002524.3:c.101C>T
  • P01111:p.Pro34Leu
Protein change:
P34L; PRO34LEU
Links:
UniProtKB: P01111#VAR_071130; OMIM: 164790.0006; dbSNP: rs397514553
NCBI 1000 Genomes Browser:
rs397514553
Molecular consequence:
  • NM_002524.4:c.101C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermal nevus
Synonyms:
NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, epidermal, somatic; Epidermal nevi
Identifiers:
MedGen: C0334082; Orphanet: 79414; OMIM: 162900; Human Phenotype Ontology: HP:0010816

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056617OMIMno assertion criteria providedPathogenic
(Apr 1, 2012)
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

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

PubMed [citation]
PMID:
22499344

Details of each submission

From OMIM, SCV000056617.2

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

Description

Hafner et al. (2012) identified a somatic pro34-to-leu (P34L) mutation in the NRAS gene in 1 of 72 keratinocytic epidermal nevi (162900).

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

Last Updated: Mar 30, 2019

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