Variant: NM_001754.4(RUNX1):c.*4140C>T

CA10644610

339796 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 29652fe8-e9d3-411e-b7da-407a4d918e27

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*4140C>T
NM_001754.4(RUNX1):c.*4140C>T
NM_001001890.2:c.*4140C>T
NM_001001890.3:c.*4140C>T
ENST00000300305.7:c.*4140C>T
ENST00000344691.8:c.*4140C>T
ENST00000437180.5:c.*4140C>T
NC_000021.9:g.34787995G>A
CM000683.2:g.34787995G>A
NC_000021.8:g.36160292G>A
CM000683.1:g.36160292G>A
NC_000021.7:g.35082162G>A
NG_011402.2:g.1201717C>T

Benign

• Met criteria codes: BA1 BP2

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

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Evidence submitted by expert panel

Myeloid Malignancy VCEP

The c.*4140C>T variant in the 3' UTR has an MAF of 0.005246 (0.5%, 16/3050 alleles) in the South Asian subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 1 individual in the gnomAD v3 population database (BP2). 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, BP2.

Met criteria codes

• BA1: The variant is reported at the highest MAF in the South Asian population in gnomAD v3 at a frequency of 0.005246 (16/3050 alleles), with 1 homozygote.
• BP2: 1 homozygous individual reported in gnomAD v3

Not Met criteria codes

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