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NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) 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:
RCV000443973.1

Allele description

NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
HGVS:
  • NC_000012.12:g.25245350C>T
  • NG_007524.1:g.10571G>A
  • NG_007524.2:g.10654G>A
  • NM_001369786.1:c.35G>A
  • NM_001369787.1:c.35G>A
  • NM_004985.5:c.35G>AMANE SELECT
  • NM_033360.4:c.35G>A
  • NP_001356715.1:p.Gly12Asp
  • NP_001356716.1:p.Gly12Asp
  • NP_004976.2:p.Gly12Asp
  • NP_203524.1:p.Gly12Asp
  • LRG_344t1:c.35G>A
  • LRG_344t2:c.35G>A
  • LRG_344:g.10654G>A
  • LRG_344p1:p.Gly12Asp
  • LRG_344p2:p.Gly12Asp
  • NC_000012.11:g.25398284C>T
  • NM_004985.3:c.35G>A
  • NM_004985.4:c.35G>A
  • NM_033360.2:c.35G>A
  • NM_033360.3:c.35G>A
  • P01116:p.Gly12Asp
Protein change:
G12D; GLY12ASP
Links:
UniProtKB: P01116#VAR_016026; OMIM: 190070.0005; OMIM: 190070.0025; dbSNP: rs121913529
NCBI 1000 Genomes Browser:
rs121913529
Molecular consequence:
  • NM_001369786.1:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

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
SCV000504483Database 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

Phase II trial of sorafenib in metastatic thyroid cancer.

Kloos RT, Ringel MD, Knopp MV, Hall NC, King M, Stevens R, Liang J, Wakely PE Jr, Vasko VV, Saji M, Rittenberry J, Wei L, Arbogast D, Collamore M, Wright JJ, Grever M, Shah MH.

J Clin Oncol. 2009 Apr 1;27(10):1675-84. doi: 10.1200/JCO.2008.18.2717. Epub 2009 Mar 2.

PubMed [citation]
PMID:
19255327
PMCID:
PMC2668972

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
See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504483.1

#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: Jun 14, 2022