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NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) AND RASopathy

Germline classification:
Pathogenic (1 submission)
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:
RCV000149829.3

Allele description

NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.4(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_001130442.3:c.34G>T
  • NM_001318054.2:c.-286G>T
  • NM_005343.4:c.34G>TMANE SELECT
  • NM_176795.5:c.34G>T
  • NP_001123914.1:p.Gly12Cys
  • NP_005334.1:p.Gly12Cys
  • NP_789765.1:p.Gly12Cys
  • LRG_506t1:c.34G>T
  • LRG_506:g.6262G>T
  • LRG_506p1:p.Gly12Cys
  • NC_000011.9:g.534289C>A
  • NM_005343.2:c.34G>T
  • NM_005343.3: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_001318054.2:c.-286G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196673Baylor Genetics
no assertion criteria provided
Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, et al.

J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.

PubMed [citation]
PMID:
21850009

Details of each submission

From Baylor Genetics, SCV000196673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant classified using ACMG guidelines

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

Last Updated: Aug 13, 2023