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NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Endometrial carcinoma

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000119792.10

Allele description [Variation Report for NM_004985.5(KRAS):c.40G>A (p.Val14Ile)]

NM_004985.5(KRAS):c.40G>A (p.Val14Ile)

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.40G>A (p.Val14Ile)
Other names:
p.V14I:GTA>ATA; NM_004985.4(KRAS):c.40G>A
HGVS:
  • NC_000012.12:g.25245345C>T
  • NG_007524.2:g.10659G>A
  • NM_001369786.1:c.40G>A
  • NM_001369787.1:c.40G>A
  • NM_004985.5:c.40G>AMANE SELECT
  • NM_033360.4:c.40G>A
  • NP_001356715.1:p.Val14Ile
  • NP_001356716.1:p.Val14Ile
  • NP_004976.2:p.Val14Ile
  • NP_203524.1:p.Val14Ile
  • LRG_344t1:c.40G>A
  • LRG_344t2:c.40G>A
  • LRG_344:g.10659G>A
  • LRG_344p1:p.Val14Ile
  • LRG_344p2:p.Val14Ile
  • NC_000012.11:g.25398279C>T
  • NG_007524.1:g.10576G>A
  • NM_004985.3:c.40G>A
  • NM_004985.4:c.40G>A
  • NM_033360.2:c.40G>A
  • NM_033360.3:c.40G>A
  • P01116:p.Val14Ile
Protein change:
V14I; VAL14ILE
Links:
UniProtKB: P01116#VAR_026109; OMIM: 190070.0012; dbSNP: rs104894365
NCBI 1000 Genomes Browser:
rs104894365
Molecular consequence:
  • NM_001369786.1:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154264Laboratory of Translational Genomics, National Cancer Institute
no classification provided
not providedsomaticnot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Laboratory of Translational Genomics, National Cancer Institute, SCV000154264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024