NM_000222.2(KIT):c.2447A>T (p.Asp816Val)

Variation ID: Help
13852
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000222.2(KIT):c.2447A>T (p.Asp816Val)

Allele ID:
28891
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
  • Chr4: 54733155 (on Assembly GRCh38)
  • Chr4: 55599321 (on Assembly GRCh37)
Protein change:
D816V
HGVS:
  • NG_007456.1:g.80161A>T
  • NM_000222.2:c.2447A>T
  • NP_000213.1:p.Asp816Val
  • NC_000004.12:g.54733155A>T (GRCh38)
  • LRG_307t1:c.2447A>T
  • NC_000004.11:g.55599321A>T (GRCh37)
  • P10721:p.Asp816Val
  • LRG_307p1:p.Asp816Val
  • LRG_307:g.80161A>T
Links:
NCBI 1000 Genomes Browser:
rs121913507
Molecular consequence:
NM_000222.2:c.2447A>T: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_000222.2(KIT):c.2447A>T (p.Asp816Val)

GRCh37 Chr4:55599321
Called variantsPotential variants
Sample countno data0 of 41296

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 15, 2001)
no assertion criteria providedliterature onlyunknownOMIMSCV000035119.1
Pathogenic
(Aug 15, 2001)
no assertion criteria providedliterature only
  • Mastocytosis with associated hematologic disorder[MedGen]
unknownOMIMSCV000035120.1
Pathogenic
(Aug 15, 2001)
no assertion criteria providedliterature only
  • Mastocytosis, adult sporadic[MedGen]
unknownOMIMSCV000035121.1

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 10, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504208.1
Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504209.1
Likely pathogenic
(Dec 26, 2014)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504210.1
Likely pathogenic
(May 13, 2016)
no assertion criteria providedliterature only
  • Hematologic neoplasm[MeSH | MedGen]
somaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504211.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedsomatic, unknownnot providednot provided
Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
OMIMnot providednot providedunknownnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 24, 2017