Evidence Repository - Clinical Genome Resources

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

Variant: NM_001754.4(RUNX1):c.*3380A>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10650413

339809 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0020f5d8-81da-4dcb-858c-f938446b51ef

Approved on: 2020-01-13

Published on: 2020-01-14

HGVS expressions

NM_001754.4:c.*3380A>G

NM_001754.4(RUNX1):c.*3380A>G

NC_000021.9:g.34788755T>C

CM000683.2:g.34788755T>C

NC_000021.8:g.36161052T>C

CM000683.1:g.36161052T>C

NC_000021.7:g.35082922T>C

NG_011402.2:g.1200957A>G

NM_001001890.2:c.*3380A>G

ENST00000300305.7:c.*3380A>G

ENST00000344691.8:c.*3380A>G

ENST00000437180.5:c.*3380A>G

Benign

BP2 BA1

BS1 BS4 BS3 BP4 BP7 PS4 PS1 PS3 PP1 PP3 PM5 PM4 PM1 PM2 PM6 PVS1

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

The NM_001754.4:c.*3380A>G variant in the 3' UTR has an MAF of 0.08 (8%, 3561/42024 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 131 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.

BP2

The variant is reported in 23 homozygotes in gnomAD v2.1.1 and 131 homozygotes in gnomAD v3

BA1

The variant is reported at a frequency of 0.08596 (748/8702 African alleles) in gnomAD v2.1.1 and at a frequency of 0.08474 (3561/42024 African alleles) in gnomAD v3.

BS1

Meets BA1

BS4

No data currently available

BS3

No data currently available

BP4

N/A

BP7

N/A

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.

PS1

N/A

PS3

No data currently available

PP1

No data currently available

PP3

N/A

PM5

N/A

PM4

N/A

PM1

N/A

PM2

Meets BA1

PM6

No data currently available

PVS1

N/A

Curation History

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