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NM_001754.5(RUNX1):c.135C>G (p.Thr45=) AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 8, 2022
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:
RCV002264788.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.135C>G (p.Thr45=)]

NM_001754.5(RUNX1):c.135C>G (p.Thr45=)

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.135C>G (p.Thr45=)
Other names:
NM_001754.5(RUNX1):c.135C>G; p.Thr45=
HGVS:
  • NC_000021.9:g.34887059G>C
  • NG_011402.2:g.1102653C>G
  • NM_001001890.3:c.54C>G
  • NM_001122607.2:c.54C>G
  • NM_001754.5:c.135C>GMANE SELECT
  • NP_001001890.1:p.Thr18=
  • NP_001116079.1:p.Thr18=
  • NP_001745.2:p.Thr45=
  • LRG_482:g.1102653C>G
  • NC_000021.8:g.36259356G>C
Links:
dbSNP: rs1378434360
NCBI 1000 Genomes Browser:
rs1378434360
Molecular consequence:
  • NM_001001890.3:c.54C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001122607.2:c.54C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001754.5:c.135C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Identifiers:
MONDO: MONDO:0011071; MedGen: CN281654

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002546377ClinGen Myeloid Malignancy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen MyeloMalig ACMG Specifications v2)
Uncertain significance
(Jul 8, 2022)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Myeloid Malignancy Variant Curation Expert Panel, SCV002546377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_001754.5(RUNX1):c.135C>G (p.Thr45=) is a synonymous variant. This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). REVEL is not calculable as this is a synonymous variant. SpliceAI predicts: Acceptor loss 0.00, Donor loss 0.00, Acceptor gain 0.01, Donor gain 0.00(BP4). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, BP4.

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

Last Updated: Sep 29, 2024