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NM_000222.3(KIT):c.1676T>G (p.Val559Gly) AND Gastrointestinal stromal tumor

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 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:
RCV000441453.2

Allele description [Variation Report for NM_000222.3(KIT):c.1676T>G (p.Val559Gly)]

NM_000222.3(KIT):c.1676T>G (p.Val559Gly)

Gene:
KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000222.3(KIT):c.1676T>G (p.Val559Gly)
HGVS:
  • NC_000004.12:g.54727444T>G
  • NG_007456.1:g.74450T>G
  • NM_000222.3:c.1676T>GMANE SELECT
  • NM_001093772.2:c.1664T>G
  • NM_001385284.1:c.1679T>G
  • NM_001385285.1:c.1676T>G
  • NM_001385286.1:c.1664T>G
  • NM_001385288.1:c.1667T>G
  • NM_001385290.1:c.1679T>G
  • NM_001385292.1:c.1667T>G
  • NP_000213.1:p.Val559Gly
  • NP_001087241.1:p.Val555Gly
  • NP_001372213.1:p.Val560Gly
  • NP_001372214.1:p.Val559Gly
  • NP_001372215.1:p.Val555Gly
  • NP_001372217.1:p.Val556Gly
  • NP_001372219.1:p.Val560Gly
  • NP_001372221.1:p.Val556Gly
  • LRG_307:g.74450T>G
  • NC_000004.11:g.55593610T>G
Protein change:
V555G
Links:
dbSNP: rs121913517
NCBI 1000 Genomes Browser:
rs121913517
Molecular consequence:
  • NM_000222.3:c.1676T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.1664T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.1679T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.1676T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.1664T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.1667T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.1679T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.1667T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gastrointestinal stromal tumor
Synonyms:
Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:
MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504179Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

An update on molecular genetics of gastrointestinal stromal tumours.

Tornillo L, Terracciano LM.

J Clin Pathol. 2006 Jun;59(6):557-63. Review.

PubMed [citation]
PMID:
16731599
PMCID:
PMC1860404

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024