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NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Acute myeloid leukemia

Germline classification:
Likely 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:
RCV000439750.3

Allele description [Variation Report for NM_004985.5(KRAS):c.35G>T (p.Gly12Val)]

NM_004985.5(KRAS):c.35G>T (p.Gly12Val)

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>T (p.Gly12Val)
Other names:
p.G12V:GGT>GTT; NP_004976.2:p.Gly12Val
HGVS:
  • NC_000012.12:g.25245350C>A
  • NG_007524.2:g.10654G>T
  • NM_001369786.1:c.35G>T
  • NM_001369787.1:c.35G>T
  • NM_004985.5:c.35G>TMANE SELECT
  • NM_033360.4:c.35G>T
  • NP_001356715.1:p.Gly12Val
  • NP_001356716.1:p.Gly12Val
  • NP_004976.2:p.Gly12Val
  • NP_203524.1:p.Gly12Val
  • LRG_344t1:c.35G>T
  • LRG_344t2:c.35G>T
  • LRG_344:g.10654G>T
  • LRG_344p1:p.Gly12Val
  • LRG_344p2:p.Gly12Val
  • NC_000012.11:g.25398284C>A
  • NG_007524.1:g.10571G>T
  • NM_004985.3:c.35G>T
  • NM_004985.4:c.35G>T
  • NM_033360.2:c.35G>T
  • P01116:p.Gly12Val
Protein change:
G12V; GLY12VAL
Links:
UniProtKB: P01116#VAR_006840; OMIM: 190070.0006; OMIM: 190070.0026; dbSNP: rs121913529
NCBI 1000 Genomes Browser:
rs121913529
Molecular consequence:
  • NM_001369786.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504471Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Oct 2, 2014)
somaticliterature only

PubMed (5)
[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

Implications of NRAS mutations in AML: a study of 2502 patients.

Bacher U, Haferlach T, Schoch C, Kern W, Schnittger S.

Blood. 2006 May 15;107(10):3847-53. Epub 2006 Jan 24.

PubMed [citation]
PMID:
16434492

RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes.

Janssen JW, Steenvoorden AC, Lyons J, Anger B, Böhlke JU, Bos JL, Seliger H, Bartram CR.

Proc Natl Acad Sci U S A. 1987 Dec;84(24):9228-32.

PubMed [citation]
PMID:
3122217
PMCID:
PMC299726
See all PubMed Citations (5)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024