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]

Variant: NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)

CA320251280

532665 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 8ca96e64-f41f-4c7a-817e-976efbaf828c
Approved on: 2023-11-13
Published on: 2023-11-13

HGVS expressions

NM_001754.5:c.1354G>A
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)
NC_000021.9:g.34792224C>T
CM000683.2:g.34792224C>T
NC_000021.8:g.36164521C>T
CM000683.1:g.36164521C>T
NC_000021.7:g.35086391C>T
NG_011402.2:g.1197488G>A
ENST00000675419.1:c.1354G>A
ENST00000300305.7:c.1354G>A
ENST00000344691.8:c.1273G>A
ENST00000399240.5:c.1081G>A
ENST00000437180.5:c.1354G>A
ENST00000482318.5:c.*944G>A
NM_001001890.2:c.1273G>A
NM_001754.4:c.1354G>A
NM_001001890.3:c.1273G>A
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Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 25
BS2 BS4 BS3 BS1 BP2 BP3 BP1 BP5 BP7 PS2 PS4 PS3 PS1 BA1 PP4 PP1 PP3 PP2 PM3 PM1 PM4 PM5 PM6 PM2 PVS1

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
BP4: This missense variant has a REVEL score < 0.50 (0.083). 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: BP4.
Met criteria codes
BP4
REVEL score: 0.083, PhyloP100way: 7.333, SpliceAI Δ score 0.00 BP4: This missense variant has a REVEL score < 0.50 (0.083).
Not Met criteria codes
BS2
not applicable
BS4
nil data
BS3
nil data
BS1
allele frequency gnomAD V2: 0.00001
BP2
not applicable
BP3
not applicable
BP1
not applicable
BP5
not applicable
BP7
not applicable
PS2
nil data
PS4
nil data
PS3
nil data
PS1
Single report of RUNX1(ENST00000675419.1):c.1354G>C (p.Val452Leu) (ClinVar) reported as a VUS
BA1
allele frequency gnomAD V2: 0.00001
PP4
not applicable
PP1
nil data
PP3
BP4 met
PP2
not applicable
PM3
not applicable
PM1
not applicable
PM4
not applicable
PM5
Single report of RUNX1(ENST00000675419.1):c.1354G>C (p.Val452Leu) (ClinVar) reported as a VUS
PM6
nil data
PM2
allele frequency gnomAD V2: 0.00001
PVS1
not applicable
Curation History
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