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NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Neoplasm of the large intestine

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
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:
RCV000431117.2

Allele description [Variation Report for NM_005896.4(IDH1):c.395G>A (p.Arg132His)]

NM_005896.4(IDH1):c.395G>A (p.Arg132His)

Gene:
IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
HGVS:
  • NC_000002.12:g.208248388C>T
  • NG_023319.2:g.22687G>A
  • NM_001282386.1:c.395G>A
  • NM_001282387.1:c.395G>A
  • NM_005896.4:c.395G>AMANE SELECT
  • NP_001269315.1:p.Arg132His
  • NP_001269316.1:p.Arg132His
  • NP_005887.2:p.Arg132His
  • LRG_610t2:c.395G>A
  • LRG_610t3:c.395G>A
  • LRG_610:g.22687G>A
  • LRG_610p2:p.Arg132His
  • LRG_610p3:p.Arg132His
  • NC_000002.11:g.209113112C>T
  • NM_005896.3:c.395G>A
  • O75874:p.Arg132His
Protein change:
R132H; ARG132HIS
Links:
UniProtKB: O75874#VAR_055455; OMIM: 147700.0001; dbSNP: rs121913500
NCBI 1000 Genomes Browser:
rs121913500
Molecular consequence:
  • NM_001282386.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282387.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005896.4:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of the large intestine
Synonyms:
Colorectal Neoplasms; Colorectal neoplasm
Identifiers:
MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503803Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503803.1

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

Last Updated: Oct 20, 2024