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NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) AND Thyroid tumor

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
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:
RCV000428812.2

Allele description [Variation Report for NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)]

NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)

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.37G>T (p.Gly13Cys)
Other names:
p.G13C:GGT>TGT; NM_005343.3(HRAS):c.37G>T
HGVS:
  • NC_000011.10:g.534286C>A
  • NG_007666.1:g.6265G>T
  • NM_001130442.3:c.37G>T
  • NM_001318054.2:c.-283G>T
  • NM_005343.4:c.37G>TMANE SELECT
  • NM_176795.5:c.37G>T
  • NP_001123914.1:p.Gly13Cys
  • NP_005334.1:p.Gly13Cys
  • NP_789765.1:p.Gly13Cys
  • LRG_506t1:c.37G>T
  • LRG_506:g.6265G>T
  • LRG_506p1:p.Gly13Cys
  • NC_000011.9:g.534286C>A
  • NM_005343.2:c.37G>T
  • NM_005343.3:c.37G>T
  • P01112:p.Gly13Cys
  • c.37G>T
Protein change:
G13C; GLY13CYS
Links:
UniProtKB: P01112#VAR_026107; OMIM: 190020.0007; dbSNP: rs104894228
NCBI 1000 Genomes Browser:
rs104894228
Molecular consequence:
  • NM_001318054.2:c.-283G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thyroid tumor
Synonyms:
Neoplasm of the thyroid gland
Identifiers:
MONDO: MONDO:0015074; MeSH: D013964; MedGen: C0040136; Human Phenotype Ontology: HP:0100031

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504407Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014)
somaticliterature only

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Hyperactive Ras in developmental disorders and cancer.

Schubbert S, Shannon K, Bollag G.

Nat Rev Cancer. 2007 Apr;7(4):295-308. Review. Erratum in: Nat Rev Cancer. 2007 Jul;7(7):563.

PubMed [citation]
PMID:
17384584

Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.

Ho AL, Grewal RK, Leboeuf R, Sherman EJ, Pfister DG, Deandreis D, Pentlow KS, Zanzonico PB, Haque S, Gavane S, Ghossein RA, Ricarte-Filho JC, Domínguez JM, Shen R, Tuttle RM, Larson SM, Fagin JA.

N Engl J Med. 2013 Feb 14;368(7):623-32. doi: 10.1056/NEJMoa1209288.

PubMed [citation]
PMID:
23406027
PMCID:
PMC3615415
See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024