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NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Malignant tumor of urinary bladder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 17, 1984
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:
RCV000013408.5

Allele description [Variation Report for NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)]

NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)

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.34G>C (p.Gly12Arg)
HGVS:
  • NC_000012.12:g.25245351C>G
  • NG_007524.2:g.10653G>C
  • NM_001369786.1:c.34G>C
  • NM_001369787.1:c.34G>C
  • NM_004985.5:c.34G>CMANE SELECT
  • NM_033360.4:c.34G>C
  • NP_001356715.1:p.Gly12Arg
  • NP_001356716.1:p.Gly12Arg
  • NP_004976.2:p.Gly12Arg
  • NP_203524.1:p.Gly12Arg
  • LRG_344t1:c.34G>C
  • LRG_344t2:c.34G>C
  • LRG_344:g.10653G>C
  • LRG_344p1:p.Gly12Arg
  • LRG_344p2:p.Gly12Arg
  • NC_000012.11:g.25398285C>G
  • NG_007524.1:g.10570G>C
  • NM_004985.3:c.34G>C
  • NM_033360.3:c.34G>C
  • P01116:p.Gly12Arg
Protein change:
G12R; GLY12ARG
Links:
UniProtKB: P01116#VAR_016027; OMIM: 190070.0002; dbSNP: rs121913530
NCBI 1000 Genomes Browser:
rs121913530
Molecular consequence:
  • NM_001369786.1:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033655OMIM
no assertion criteria provided
Pathogenic
(Feb 17, 1984) 		somaticliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Malignant activation of a K-ras oncogene in lung carcinoma but not in normal tissue of the same patient.

Santos E, Martin-Zanca D, Reddy EP, Pierotti MA, Della Porta G, Barbacid M.

Science. 1984 Feb 17;223(4637):661-4.

PubMed [citation]
PMID:
6695174

Details of each submission

From OMIM, SCV000033655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a squamous cell lung carcinoma (211980) from a 66-year-old man, Santos et al. (1984) identified a G-to-C transversion in exon 1 of the KRAS2 gene, resulting in a gly12-to-arg (G12R) substitution. The mutation was not identified in the patient's normal bronchial and pulmonary parenchymal tissues or blood lymphocytes. This mutation had previously been identified in a bladder cancer (109800) and a lung cancer.

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

Last Updated: Apr 15, 2024