U.S. flag

An official website of the United States government

NM_001754.5(RUNX1):c.442_449del (p.Thr148fs) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2008
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000015557.30

Allele description [Variation Report for NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)]

NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)

Genes:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
RUNX1-AS1:RUNX1 antisense RNA 1 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)
Other names:
NM_001754.4(RUNX1):c.442_449delACCGCAGC; NM_001754.5(RUNX1):c.442_449del; p.Thr148fs
HGVS:
  • NC_000021.9:g.34880616_34880623del
  • NG_011402.2:g.1109089_1109096del
  • NM_001001890.3:c.361_368del
  • NM_001122607.2:c.361_368del
  • NM_001754.5:c.442_449delMANE SELECT
  • NP_001001890.1:p.Thr121fs
  • NP_001116079.1:p.Thr121fs
  • NP_001745.2:p.Thr148fs
  • NP_001745.2:p.Thr148fs
  • LRG_482t1:c.442_449del
  • LRG_482:g.1109089_1109096del
  • LRG_482p1:p.Thr148fs
  • NC_000021.8:g.36252913_36252920del
  • NC_000021.9:g.34880616_34880623delGCTGCGGT
  • NM_001754.4:c.442_449del
  • p.Thr148Hisfs
Note:
NCBI staff reviewed the sequence information reported in PubMed 18478040 Fig. 1a to determine the location of this deletion on the current reference sequence.
Protein change:
T121fs
Links:
OMIM: 151385.0009; dbSNP: rs587776811
NCBI 1000 Genomes Browser:
rs587776811
Molecular consequence:
  • NM_001001890.3:c.361_368del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001122607.2:c.361_368del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001754.5:c.442_449del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035822OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2008) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P.

Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14.

PubMed [citation]
PMID:
18478040

Details of each submission

From OMIM, SCV000035822.4

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

Description

In a boy with autosomal dominant platelet disorder and myeloid malignancy (FPDMM; 601399), Beri-Dexheimer et al. (2008) identified a heterozygous 8-bp deletion in exon 4 of the RUNX1 gene, most likely resulting in premature termination and nonsense-mediated decay of mRNA. His mother, who did not have a history of bleeding but showed abnormal platelet function, also carried the mutation. Only the boy developed AML.

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

Last Updated: Aug 4, 2024