The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_001754.5(RUNX1):c.*2594_*2597del

CA10644626

339826 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: fef04edf-87f0-4178-8389-289baf2d7318
Approved on: 2025-01-15
Published on: 2025-01-15

HGVS expressions

NM_001754.5:c.*2594_*2597del
NM_001754.5(RUNX1):c.*2594_*2597del
NC_000021.9:g.34789540_34789543del
CM000683.2:g.34789540_34789543del
NC_000021.8:g.36161837_36161840del
CM000683.1:g.36161837_36161840del
NC_000021.7:g.35083707_35083710del
NG_011402.2:g.1200171_1200174del
ENST00000675419.1:c.*2594_*2597del
ENST00000300305.7:c.*2594_*2597del
ENST00000344691.8:c.*2594_*2597del
ENST00000437180.5:c.*2594_*2597del
NM_001001890.2:c.*2594_*2597del
NM_001754.4:c.*2594_*2597del
NM_001001890.3:c.*2594_*2597del
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Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 25
BP7 BP5 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1 PP1 PP4 PP3 PP2 PM1 PM5 PM3 PM4 PM6 BA1 PVS1 BS4 BS3 BS1 BS2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

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Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.*2594_*2597del is a UTR 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. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting.
Met criteria codes
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting).
Not Met criteria codes
BP7
This variant is not a synonymous or intronic variant.
BP5
This rule is not applicable for MM-VCEP.
BP2
This variant has not been observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
BP3
This rule is not applicable for MM-VCEP.
BP4
UTR variant
BP1
This rule is not applicable for MM-VCEP.
PS2
De novo data for this variant has not been reported in literature.
PS4
Proband data for this variant has not been reported in literature.
PS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
PS1
Not a missense variant
PP1
Segregation data for this variant has not been reported in literature.
PP4
This rule is not applicable for MM-VCEP.
PP3
UTR variant
PP2
This rule is not applicable for MM-VCEP.
PM1
This variant is not a missense variant.
PM5
Not a missense variant
PM3
This rule is not applicable for MM-VCEP.
PM4
This variant is not an in-frame deletion/insertion.
PM6
De novo data for this variant has not been reported in literature.
BA1
This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.
PVS1
This variant is not a null variant.
BS4
Segregation data for this variant has not been reported in literature.
BS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
BS1
This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.
BS2
This rule is not applicable for MM-VCEP.
Curation History
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