Variant: NM_001754.4(RUNX1):c.*2193del

CA10644627

339838 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 7069eaf3-7f60-45ec-b776-128e1fbd7466

HGVS expressions

NM_001754.4:c.*2193delG
NM_001754.4:c.*2193del
NM_001754.4(RUNX1):c.*2193del
NM_001001890.2:c.*2193del
NM_001001890.3:c.*2193del
ENST00000300305.7:c.*2193del
ENST00000344691.8:c.*2193del
ENST00000437180.5:c.*2193del
NC_000021.9:g.34789942del
CM000683.2:g.34789942del
NC_000021.8:g.36162239del
CM000683.1:g.36162239del
NC_000021.7:g.35084109del
NG_011402.2:g.1199770del

Benign

• Met criteria codes: BA1

• Not Met criteria codes: PS4 PS1 PS3 BP7 BP4 BP2 PP3 PP1 PM5 PM4 PM1 PM2 PM6 PVS1 BS1 BS3 BS4

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Evidence submitted by expert panel

Myeloid Malignancy VCEP

The RUNX1 c.*2193del variant in the 3' UTR has an MAF of 0.007918 (0.79%, 69/8714 alleles) in the African subpopulation of the gnomAD v2.1.1 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 variant is reported at the highest MAF in the African population in gnomAD v2.1.1, at a frequency of 0.007918 (69/8714 alleles), with 0 homozygotes.

Not Met criteria codes

• PS4: Variant meets BA1
• PS1: N/A
• PS3: N/A
• BP7: N/A
• BP4: N/A
• BP2: N/A
• PP3: N/A
• PP1: N/A
• PM5: N/A
• PM4: N/A
• PM1: N/A
• PM2: Variant meets BA1
• PM6: N/A
• PVS1: N/A
• BS1: Variant meets BA1
• BS3: N/A
• BS4: N/A

Approved on: 2020-05-13

Published on: 2020-06-02