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NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) AND MASTOCYTOSIS, SYSTEMIC, SOMATIC

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1997
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:
RCV000014867.28

Allele description [Variation Report for NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)]

NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)

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.2459A>G (p.Asp820Gly)
HGVS:
  • NC_000004.12:g.54733167A>G
  • NG_007456.1:g.80173A>G
  • NM_000222.3:c.2459A>GMANE SELECT
  • NM_001093772.2:c.2447A>G
  • NM_001385284.1:c.2462A>G
  • NM_001385285.1:c.2456A>G
  • NM_001385286.1:c.2444A>G
  • NM_001385288.1:c.2450A>G
  • NM_001385290.1:c.2459A>G
  • NM_001385292.1:c.2447A>G
  • NP_000213.1:p.Asp820Gly
  • NP_001087241.1:p.Asp816Gly
  • NP_001372213.1:p.Asp821Gly
  • NP_001372214.1:p.Asp819Gly
  • NP_001372215.1:p.Asp815Gly
  • NP_001372217.1:p.Asp817Gly
  • NP_001372219.1:p.Asp820Gly
  • NP_001372221.1:p.Asp816Gly
  • LRG_307:g.80173A>G
  • NC_000004.11:g.55599333A>G
  • P10721:p.Asp820Gly
Protein change:
D815G; ASP820GLY
Links:
UniProtKB: P10721#VAR_033135; OMIM: 164920.0010; dbSNP: rs121913682
NCBI 1000 Genomes Browser:
rs121913682
Molecular consequence:
  • NM_000222.3:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.2447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.2462A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.2456A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.2444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.2447A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MASTOCYTOSIS, SYSTEMIC, SOMATIC
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035122OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1997) 		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

A new c-kit mutation in a case of aggressive mast cell disease.

Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, Vernant JP, Tulliez M.

Br J Haematol. 1997 Feb;96(2):374-6.

PubMed [citation]
PMID:
9029028

Details of each submission

From OMIM, SCV000035122.3

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

Description

In a 44-year-old man with aggressive mast cell disease (MASTCYS; 154800), who was negative for the D816V mutation (164920.0009), Pignon et al. (1997) identified a somatic asp820-to-gly (D820G) substitution in the KIT gene. The patient, who had 40% abnormal mast cells in bone marrow aspirates, died from massive multivisceral involvement of the mastocytosis.

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

Last Updated: Sep 29, 2024