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.*2768A>C

CA10653554

339822 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 3689a40d-1e1d-45dc-8039-377d77f041f0
Approved on: 2020-01-13
Published on: 2020-01-14

HGVS expressions

NM_001754.4:c.*2768A>C
NM_001754.4(RUNX1):c.*2768A>C
NC_000021.9:g.34789367T>G
CM000683.2:g.34789367T>G
NC_000021.8:g.36161664T>G
CM000683.1:g.36161664T>G
NC_000021.7:g.35083534T>G
NG_011402.2:g.1200345A>C
NM_001001890.2:c.*2768A>C
ENST00000300305.7:c.*2768A>C
ENST00000344691.8:c.*2768A>C
ENST00000437180.5:c.*2768A>C
More

Benign

Met criteria codes 2
BA1 BP2
Not Met criteria codes 16
PM5 PM1 PM4 PM2 PM6 PS1 PS3 PS4 PP3 PP1 PVS1 BS1 BS3 BS4 BP4 BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
The NM_001754.4(RUNX1):c.*2768A>C variant in the 3' UTR has an MAF of 0.0935 (9%, 3917/41896 alleles) in the African subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 167 individuals 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
This 3' UTR variant is reported in gnomAD v2.1.1 at a frequency of 0.0964 (836/8672 alleles) and in gnomAD v3 at a frequency of 0.0935 (3917/41896 alleles) in the African population. It meets criteria for BA1.
BP2
The variant is reported in 25 homozygotes in gnomAD v2.1.1 and 167 homozygotes in gnomAD v3 in the African population, meeting BP2
Not Met criteria codes
PM5
N/A
PM1
N/A
PM4
N/A
PM2
Variant meets BA1
PM6
No data currently available
PS1
N/A
PS3
No data currently available
PS4
The variant has not been reported in patients with familial platelet disorder with predisposition to hematologic malignancies in the literature, to the best of our knowledge.
PP3
N/A
PP1
No data currently available
PVS1
N/A
BS1
Variant meets BA1
BS3
No data currently available
BS4
No data currently available
BP4
N/A
BP7
N/A
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.