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NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Germline classification:
Uncertain significance (1 submission)
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:
RCV002245584.2

Allele description [Variation Report for NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln)]

NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln)

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.305T>A (p.Leu102Gln)
Other names:
NM_001754.4(RUNX1):c.305T>A; p.Leu102Gln
HGVS:
  • NC_000021.9:g.34886889A>T
  • NG_011402.2:g.1102823T>A
  • NM_001001890.3:c.224T>A
  • NM_001122607.2:c.224T>A
  • NM_001754.5:c.305T>AMANE SELECT
  • NP_001001890.1:p.Leu75Gln
  • NP_001116079.1:p.Leu75Gln
  • NP_001745.2:p.Leu102Gln
  • NP_001745.2:p.Leu102Gln
  • LRG_482t1:c.305T>A
  • LRG_482:g.1102823T>A
  • LRG_482p1:p.Leu102Gln
  • NC_000021.8:g.36259186A>T
  • NM_001754.4:c.305T>A
Protein change:
L102Q
Links:
dbSNP: rs1569084132
NCBI 1000 Genomes Browser:
rs1569084132
Molecular consequence:
  • NM_001001890.3:c.224T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.224T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.305T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Synonyms:
Platelet disorder, Aspirin-like; Familial platelet disorder with associated myeloid malignancy; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100083; MeSH: C563324; MedGen: C1832388; Orphanet: 71290; OMIM: 601399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515716ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515716.1

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

Last Updated: Aug 25, 2024