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NM_001754.5(RUNX1):c.388G>C (p.Val130Leu) AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 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:
RCV004775632.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)]

NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)

Genes:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
RUNX1-AS1:RUNX1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)
Other names:
NM_001754.5:c.388G>C
HGVS:
  • NC_000021.9:g.34880677C>G
  • NG_011402.2:g.1109035G>C
  • NM_001001890.3:c.307G>C
  • NM_001122607.2:c.307G>C
  • NM_001754.5:c.388G>CMANE SELECT
  • NP_001001890.1:p.Val103Leu
  • NP_001116079.1:p.Val103Leu
  • NP_001745.2:p.Val130Leu
  • NP_001745.2:p.Val130Leu
  • LRG_482t1:c.388G>C
  • LRG_482:g.1109035G>C
  • LRG_482p1:p.Val130Leu
  • NC_000021.8:g.36252974C>G
  • NM_001754.4:c.388G>C
Protein change:
V103L
Molecular consequence:
  • NM_001001890.3:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122607.2:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001754.5:c.388G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005382779ClinGen Myeloid Malignancy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen MyeloMalig ACMG Specifications v2)		Uncertain Significance
(Oct 29, 2024) 		germlinecuration

Citation Link

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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, SCV005382779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_001754.5(RUNX1):c.388G>C (p.Val130Leu) is a missense variant which has a REVEL score ≥ 0.88 (0.915) (PP3). This variant affects a residue within the Runt Homology Domain (AA 89-204) but does not affect an established hotspot residue (PM1_supporting). This variant 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. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PP3, PM1_supporting, PM2_supporting.

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

Last Updated: Nov 10, 2024