U.S. flag

An official website of the United States government

NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu) AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 2024
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:
RCV004694245.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)]

NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)

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.1076C>T (p.Pro359Leu)
Other names:
NM_001754.5(RUNX1):c.1076C>T; p.Pro359Leu
HGVS:
  • NC_000021.9:g.34792502G>A
  • NG_011402.2:g.1197210C>T
  • NM_001001890.3:c.995C>T
  • NM_001754.5:c.1076C>TMANE SELECT
  • NP_001001890.1:p.Pro332Leu
  • NP_001745.2:p.Pro359Leu
  • NP_001745.2:p.Pro359Leu
  • LRG_482t1:c.1076C>T
  • LRG_482:g.1197210C>T
  • LRG_482p1:p.Pro359Leu
  • NC_000021.8:g.36164799G>A
  • NM_001754.4:c.1076C>T
Protein change:
P332L
Molecular consequence:
  • NM_001001890.3:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV005196549ClinGen Myeloid Malignancy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen MyeloMalig ACMG Specifications v2)		Uncertain Significance
(Jul 25, 2024) 		germlinecuration

Citation Link

Help

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, SCV005196549.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu) is a missense variant which is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). In summary, the clinical significance of this variant is uncertain due to insufficient evidence. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting.

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

Last Updated: Sep 29, 2024