NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: May 1, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001270576.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)]

NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)

Gene:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)
HGVS:
  • NC_000021.9:g.34859494T>A
  • NC_000021.9:g.34859494T>A
  • NG_011402.2:g.1130218A>T
  • NM_001001890.3:c.512A>T
  • NM_001122607.2:c.512A>T
  • NM_001754.4:c.593A>T
  • NM_001754.5:c.593A>TMANE SELECT
  • NP_001001890.1:p.Asp171Val
  • NP_001116079.1:p.Asp171Val
  • NP_001745.2:p.Asp198Val
  • NP_001745.2:p.Asp198Val
  • LRG_482t1:c.593A>T
  • LRG_482:g.1130218A>T
  • LRG_482p1:p.Asp198Val
  • NC_000021.8:g.36231791T>A
Protein change:
D171V
Links:
dbSNP: rs1569061786
NCBI 1000 Genomes Browser:
rs1569061786
Molecular consequence:
  • NM_001001890.3:c.512A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.512A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.4:c.593A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.593A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal bleeding
Synonyms:
Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis
Identifiers:
MedGen: C1458140; Human Phenotype Ontology: HP:0001892
Name:
Thrombocytopenia
Synonyms:
Low platelet count
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001450875Birmingham Platelet Group; University of Birminghamno assertion criteria providedLikely pathogenic
(May 1, 2020)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Birmingham Platelet Group; University of Birmingham, SCV001450875.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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