The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

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
NM_001001890.2:c.*2329A>G
NM_001001890.3:c.*2329A>G
ENST00000300305.7:c.*2329A>G
ENST00000344691.8:c.*2329A>G
ENST00000437180.5: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
More

Benign

Met criteria codes 1
BA1
Not Met criteria codes 17
PVS1 BS1 BS3 BS4 BP7 BP4 BP2 PS1 PS3 PS4 PP3 PP1 PM5 PM4 PM1 PM2 PM6

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
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
PVS1
N/A
BS1
Variant meets BA1
BS3
N/A
BS4
N/A
BP7
N/A
BP4
N/A
BP2
N/A
PS1
N/A
PS3
N/A
PS4
Variant meets BA1
PP3
N/A
PP1
N/A
PM5
N/A
PM4
N/A
PM1
N/A
PM2
Variant meets BA1
PM6
N/A
Curation History
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