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]

Link to SEPIO compliant JSON-LD document

Variant: NM_001754.4(RUNX1):c.*4032T>C

CA10653545

339797 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 3c95e75d-735c-49cf-9bef-f6bd97b0da95

Approved on: 2020-01-13

Published on: 2020-01-14

HGVS expressions

NM_001754.4:c.*4032T>C

NM_001754.4(RUNX1):c.*4032T>C

NC_000021.9:g.34788103A>G

CM000683.2:g.34788103A>G

NC_000021.8:g.36160400A>G

CM000683.1:g.36160400A>G

NC_000021.7:g.35082270A>G

NG_011402.2:g.1201609T>C

NM_001001890.2:c.*4032T>C

ENST00000300305.7:c.*4032T>C

ENST00000344691.8:c.*4032T>C

ENST00000437180.5:c.*4032T>C

Benign

BP2 BA1

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

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.*4032T>C variant reported at an MAF of 0.096 (9%, 835/8702 alleles) in the African population in gnomAD cohort is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 25 individuals in gnomAD (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 25 homozygotes in gnomAD

BA1

The variant is reported in gnomAD at a frequency of 0.09595 (835/8702 alleles) in the African population, with 25 homozygotes, meeting criteria for BA1 (AF > 0.0015)

BP7

N/A

BP4

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.

PS3

No data currently available

PS1

N/A

PVS1

N/A

PP1

No data currently available

PP3

N/A

PM2

Variant meets BA1

PM6

No data currently available

PM1

N/A

PM5

N/A

PM4

N/A

BS1

Variant meets BA1

BS4

No data currently available

BS3

No data currently available

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