Evidence Repository
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.530_532dup (p.Ile177dup)

CA16616526

409812 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: bfe17e49-d719-49ee-8cb9-d2aebad1cffc
Approved on: 2024-09-25
Published on: 2024-09-25

HGVS expressions

NM_001754.5:c.530_532dup
NM_001754.5(RUNX1):c.530_532dup (p.Ile177dup)
NC_000021.9:g.34859557_34859559dup
CM000683.2:g.34859557_34859559dup
NC_000021.8:g.36231854_36231856dup
CM000683.1:g.36231854_36231856dup
NC_000021.7:g.35153724_35153726dup
NG_011402.2:g.1130155_1130157dup
ENST00000675419.1:c.530_532dup
ENST00000300305.7:c.530_532dup
ENST00000344691.8:c.449_451dup
ENST00000358356.9:c.449_451dup
ENST00000399237.6:c.494_496dup
ENST00000399240.5:c.449_451dup
ENST00000437180.5:c.530_532dup
ENST00000467577.1:n.22_24dup
ENST00000482318.5:c.*120_*122dup
NM_001001890.2:c.449_451dup
NM_001122607.1:c.449_451dup
NM_001754.4:c.530_532dup
NM_001001890.3:c.449_451dup
NM_001122607.2:c.449_451dup
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Uncertain Significance

Met criteria codes 2
PM4_Supporting PM2_Supporting
Not Met criteria codes 23
PP4 PP1 PP3 PP2 PM6 PM3 PM5 PVS1 BA1 BS2 BS4 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1

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

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.530_532dup (p.Ile177_Thr178insIle) is an in-frame insertion which affects a residue within the Runt Homology domain (AA 89-294) but does not impact a residue which has been established as a hotspot (PM4_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: PM2_supporting, PM4_supporting.
Met criteria codes
PM4_Supporting
PM4_Supporting: This in-frame deletion/insertion affects at least one of the other residues (AA 89-204) within the RHD (PM4_SUPPORTING CLASSIFICATION).
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2).
Not Met criteria codes
PP4
not applicable
PP1
Nil data
PP3
not applicable
PP2
not applicable
PM6
Nil data
PM3
not applicable
PM5
not applicable
PVS1
not applicable
BA1
PM2 met
BS2
not applicable
BS4
Nil data
BS3
Nil data
BS1
PM2 met
BP5
not applicable
BP7
not applicable
BP2
not applicable
BP3
not applicable
BP4
not applicable
BP1
Not applicable
PS2
Nil data
PS4
nil data
PS3
nil data
PS1
not applicable
Curation History
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