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NC_000021.9:g.34799252_36071979del AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001818111.3

Allele description [Variation Report for NC_000021.9:g.34799252_36071979del]

NC_000021.9:g.34799252_36071979del

Genes:
  • LOC130066594:ATAC-STARR-seq lymphoblastoid active region 18406 [Gene]
  • LOC130066595:ATAC-STARR-seq lymphoblastoid active region 18407 [Gene]
  • LOC130066596:ATAC-STARR-seq lymphoblastoid active region 18408 [Gene]
  • LOC130066599:ATAC-STARR-seq lymphoblastoid active region 18410 [Gene]
  • LOC130066600:ATAC-STARR-seq lymphoblastoid active region 18411 [Gene]
  • LOC130066601:ATAC-STARR-seq lymphoblastoid active region 18412 [Gene]
  • LOC130066602:ATAC-STARR-seq lymphoblastoid active region 18413 [Gene]
  • LOC130066603:ATAC-STARR-seq lymphoblastoid active region 18414 [Gene]
  • LOC130066605:ATAC-STARR-seq lymphoblastoid active region 18415 [Gene]
  • LOC130066606:ATAC-STARR-seq lymphoblastoid active region 18416 [Gene]
  • LOC130066607:ATAC-STARR-seq lymphoblastoid active region 18417 [Gene]
  • LOC130066608:ATAC-STARR-seq lymphoblastoid active region 18418 [Gene]
  • LOC130066609:ATAC-STARR-seq lymphoblastoid active region 18419 [Gene]
  • LOC130066610:ATAC-STARR-seq lymphoblastoid active region 18420 [Gene]
  • LOC130066611:ATAC-STARR-seq lymphoblastoid active region 18421 [Gene]
  • LOC130066612:ATAC-STARR-seq lymphoblastoid active region 18422 [Gene]
  • LOC130066613:ATAC-STARR-seq lymphoblastoid active region 18423 [Gene]
  • LOC130066593:ATAC-STARR-seq lymphoblastoid silent region 13274 [Gene]
  • LOC130066597:ATAC-STARR-seq lymphoblastoid silent region 13275 [Gene]
  • LOC130066598:ATAC-STARR-seq lymphoblastoid silent region 13276 [Gene]
  • LOC130066604:ATAC-STARR-seq lymphoblastoid silent region 13277 [Gene]
  • LOC112694741:BRD4-independent group 4 enhancer GRCh37_chr21:36604354-36605553 [Gene]
  • LOC126653360:BRD4-independent group 4 enhancer GRCh37_chr21:37324968-37326167 [Gene]
  • CBR1-AS1:CBR1 antisense RNA 1 [Gene - HGNC]
  • LOC126653356:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:36589399-36590598 [Gene]
  • LOC126653358:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:37006276-37007475 [Gene]
  • LOC126653354:MED14-independent group 3 enhancer GRCh37_chr21:36208094-36209293 [Gene]
  • LOC126653357:MED14-independent group 3 enhancer GRCh37_chr21:36897177-36898376 [Gene]
  • LOC126653355:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:36237597-36238796 [Gene]
  • LOC126653359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:37104597-37105796 [Gene]
  • RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
  • RUNX1-AS1:RUNX1 antisense RNA 1 [Gene - HGNC]
  • LOC109648316:RUNX1 element RE2 [Gene]
  • LOC109648314:RUNX1 enhancer RE1 [Gene]
  • RUNX1-IT1:RUNX1 intronic transcript 1 [Gene - HGNC]
  • SETD4:SET domain containing 4 [Gene - HGNC]
  • SETD4-AS1:SETD4 antisense RNA 1 [Gene - HGNC]
  • LOC125418065:Sharpr-MPRA regulatory region 10330 [Gene]
  • LOC121627920:Sharpr-MPRA regulatory region 10978 [Gene]
  • LOC121853028:Sharpr-MPRA regulatory region 12281 [Gene]
  • LOC125418067:Sharpr-MPRA regulatory region 14404 [Gene]
  • LOC125418066:Sharpr-MPRA regulatory region 3099 [Gene]
  • LOC121627921:Sharpr-MPRA regulatory region 4684 [Gene]
  • LOC125418068:Sharpr-MPRA regulatory region 5568 [Gene]
  • CBR1:carbonyl reductase 1 [Gene - OMIM - HGNC]
  • LOC109648317:enhancer 4 sub-fragment of super-enhancer upstream of RUNX1 [Gene]
  • LINC01436:long intergenic non-protein coding RNA 1436 [Gene - HGNC]
  • MIR802:microRNA 802 [Gene - OMIM - HGNC]
  • LOC100506403:uncharacterized LOC100506403 [Gene]
  • LOC101928269:uncharacterized LOC101928269 [Gene]
Variant type:
Deletion
Cytogenetic location:
21q22.12
Genomic location:
Chr21: 34799252 - 36071979 (on Assembly GRCh38)
Preferred name:
NC_000021.9:g.34799252_36071979del
HGVS:
NC_000021.9:g.34799252_36071979del

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
SCV002072453ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067.

PubMed [citation]
PMID:
34355501
PMCID:
PMC9291976

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002072453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024