Variant: NM_001754.5(RUNX1):c.917G>A (p.Arg306His)

CA10014270

464013 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 9614f8db-2f14-4f45-bb29-002cfd83646a

Approved on: 2025-02-24

Published on: 2025-02-24

HGVS expressions

NM_001754.5:c.917G>A
NM_001754.5(RUNX1):c.917G>A (p.Arg306His)
NC_000021.9:g.34799351C>T
CM000683.2:g.34799351C>T
NC_000021.8:g.36171648C>T
CM000683.1:g.36171648C>T
NC_000021.7:g.35093518C>T
NG_011402.2:g.1190361G>A
ENST00000675419.1:c.917G>A
ENST00000300305.7:c.917G>A
ENST00000344691.8:c.836G>A
ENST00000399240.5:c.644G>A
ENST00000437180.5:c.917G>A
ENST00000482318.5:c.*507G>A
NM_001001890.2:c.836G>A
NM_001754.4:c.917G>A
NM_001001890.3:c.836G>A

Uncertain Significance

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

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

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

Evidence submitted by expert panel

Myeloid Malignancy VCEP

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: none.

Not Met criteria codes

• PM6: nil data
• PM2: gnomAD v.4.1: 19/1180046 alleles in European (non-Finish), MAF: 0.00161%; 2/74916 alleles in African/American African, MAF 0.00267%; Total: 21 alleles, MAF 0.0013% This variant is present in at least one population database.
• PM3: This rule is not applicable for MM-VCEP
• PM1: not applicable
• PM4: not applicable
• PM5: 2 other SNVs at this codon reported in ClinVar. Both reported as VUS
• PVS1: not applicable
• BS4: nil data
• BS3: nil data
• BS1: gnomAD v.4.1: 19/1180046 alleles in European (non-Finish), MAF: 0.00161%; 2/74916 alleles in African/American African, MAF 0.00267%; Total: 21 alleles, MAF 0.0013% 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
• BP5: This rule is not applicable for MM-VCEP
• BP7: Not applicable
• BP2: not applicable
• BP3: This rule is not applicable for MM-VCEP
• BP4: REVEL score: 0.504 This missense variant does not have a REVEL score < 0.50 (0.504)
• BP1: This rule is not applicable for MM-VCEP
• PS2: nil data
• PS4: nil data
• PS3: nil data
• PS1: 2 other SNVs at this codon reported in ClinVar. Both reported as VUS
• PP4: This rule is not applicable for MM-VCEP
• PP1: nil data
• PP3: REVEL score: 0.504 This missense variant does not have a REVEL score of ≥ 0.88 (0.504).
• PP2: This rule is not applicable for MM-VCEP