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NM_005343.3(HRAS):c.34G>T (p.Gly12Cys) AND Nevus sebaceous

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000029211.8

Allele description

NM_005343.3(HRAS):c.34G>T (p.Gly12Cys)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.3(HRAS):c.34G>T (p.Gly12Cys)
Other names:
p.G12C:GGC>TGC
HGVS:
  • NC_000011.10:g.534289C>A
  • NG_007666.1:g.6262G>T
  • NM_001318054.1:c.-286G>T
  • NM_005343.3:c.34G>T
  • NP_005334.1:p.Gly12Cys
  • NC_000011.9:g.534289C>A
  • NM_005343.2:c.34G>T
  • P01112:p.Gly12Cys
  • c.34G>T
Protein change:
G12C; GLY12CYS
Links:
UniProtKB: P01112#VAR_045975; OMIM: 190020.0014; dbSNP: rs104894229
NCBI 1000 Genomes Browser:
rs104894229
Molecular consequence:
  • NM_001318054.1:c.-286G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_005343.3:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nevus sebaceous
Synonyms:
Organoid nevus; Sebaceous naevus; Sebaceous mole; See all synonyms [MedGen]
Identifiers:
MedGen: C3854181; Human Phenotype Ontology: HP:0010815

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000051857OMIM
no assertion criteria provided
Pathogenic
(Apr 27, 2017)
somaticliterature only

Summary from all submissions

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

Details of each submission

From OMIM, SCV000051857.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 10, 2018