Variant: NM_001754.5(RUNX1):c.*3090A>G

CA320248929

898728 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 4575f4fa-18d1-45fa-9376-e3d5d5c3a75b

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_001754.5:c.*3090A>G
NM_001754.5(RUNX1):c.*3090A>G
NC_000021.9:g.34789045T>C
CM000683.2:g.34789045T>C
NC_000021.8:g.36161342T>C
CM000683.1:g.36161342T>C
NC_000021.7:g.35083212T>C
NG_011402.2:g.1200667A>G
ENST00000675419.1:c.*3090A>G
ENST00000300305.7:c.*3090A>G
ENST00000344691.8:c.*3090A>G
ENST00000437180.5:c.*3090A>G
NM_001001890.2:c.*3090A>G
NM_001754.4:c.*3090A>G
NM_001001890.3:c.*3090A>G

Benign

• Met criteria codes: BA1

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

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

NM_001754.5(RUNX1):c.*3090A>G is a 3' UTR variant. MAF of 0.004228 (0.4228%, 22/5204 alleles) in the East Asian subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%) (BA1). In summary, this variant meets the criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1

Met criteria codes

• BA1: MAF of 0.004228 (0.4228%, 22/5204 alleles) in the East Asian subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%)

Not Met criteria codes

• PM6: No case studies found
• PM2: Meets BA1
• PM5: 3' UTR variant
• PM1: Variant in 3' UTR region
• PM4: variant in 3' UTR region
• PM3: This rule is not applicable for MM-VCEP
• BS4: No case studies found
• BS3: Evidence not found
• BS1: Meets BA1
• BS2: This rule is not applicable for MM-VCEP
• BP7: 3' UTR variant
• BP5: This rule is not applicable for MM-VCEP
• BP4: 3' UTR variant
• BP1: This rule is not applicable for MM-VCEP
• BP3: This rule is not applicable for MM-VCEP
• BP2: No homozygotes present in gnomAD
• PVS1: 3' UTR variant
• PS2: No case studies found
• PS1: No evidence found
• PS3: Evidence not found
• PS4: This variant has been reported in one individual in an ostensibly healthy population and does not meet RUNX1-phenotypic criteria .
• PP1: No case studies found
• PP3: 3' UTR variant
• PP2: This rule is not applicable for MM-VCEP
• PP4: This rule is not applicable for MM-VCEP