Variant: NM_001754.4(RUNX1):c.*2329A>G

CA10652916

339833 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 13a52a13-6d9c-4fac-889b-0e96dcfa5552

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*2329A>G
NM_001754.4(RUNX1):c.*2329A>G
NC_000021.9:g.34789806T>C
CM000683.2:g.34789806T>C
NC_000021.8:g.36162103T>C
CM000683.1:g.36162103T>C
NC_000021.7:g.35083973T>C
NG_011402.2:g.1199906A>G
ENST00000675419.1:c.*2329A>G
ENST00000300305.7:c.*2329A>G
ENST00000344691.8:c.*2329A>G
ENST00000437180.5:c.*2329A>G
NM_001001890.2:c.*2329A>G
NM_001001890.3:c.*2329A>G
NM_001754.5:c.*2329A>G

Benign

• Met criteria codes: BA1

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

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Evidence submitted by expert panel

Myeloid Malignancy VCEP

The RUNX1 c.*2329A>G variant in the 3' UTR has an MAF of 0.01248 (1.2%, 38/3044 alleles) in the South Asian subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). In summary, this variant meets 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: The c.*2329A>G variant is reported at the highest MAF in the South Asian population in gnomAD v3, at a frequency of 0.01248 (38/3044 alleles), with 0 homozygotes.

Not Met criteria codes

• BS1: Variant meets BA1
• BS4: N/A
• BS3: N/A
• BS2: MM-VCEP deemed N/A for RUNX1
• BP5: MM-VCEP deemed N/A for RUNX1
• BP7: N/A
• BP4: N/A
• BP3: MM-VCEP deemed N/A for RUNX1
• BP1: MM-VCEP deemed N/A for RUNX1
• BP2: N/A
• PM6: N/A
• PM2: Variant meets BA1
• PVS1: N/A
• PS1: N/A
• PS2: N/A
• PS3: N/A
• PS4: Variant meets BA1
• PM1: N/A
• PM3: MM-VCEP deemed N/A for RUNX1
• PM5: N/A
• PM4: N/A
• PP1: N/A
• PP2: MM-VCEP deemed N/A for RUNX1
• PP3: N/A
• PP4: MM-VCEP deemed N/A for RUNX1