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_001754.5(RUNX1):c.*44C>G

CA10014163

258181 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0336b0ad-7285-484f-a228-44ceb5c75da9

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_001754.5:c.*44C>G

NM_001754.5(RUNX1):c.*44C>G

NC_000021.9:g.34792091G>C

CM000683.2:g.34792091G>C

NC_000021.8:g.36164388G>C

CM000683.1:g.36164388G>C

NC_000021.7:g.35086258G>C

NG_011402.2:g.1197621C>G

ENST00000675419.1:c.*44C>G

ENST00000300305.7:c.*44C>G

ENST00000344691.8:c.*44C>G

ENST00000399240.5:c.*44C>G

ENST00000437180.5:c.*44C>G

ENST00000482318.5:c.*1077C>G

NM_001001890.2:c.*44C>G

NM_001754.4:c.*44C>G

NM_001001890.3:c.*44C>G

Benign

BA1 BP2

PS2 PS4 PS3 PS1 PP4 PP1 PP3 PP2 PM6 PM2 PM3 PM1 PM4 PM5 PVS1 BS2 BS4 BS3 BS1 BP3 BP4 BP1 BP5 BP7

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specification: ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

NM_001754.5(RUNX1):c.*44C>G is a 3' UTR variant. MAF of 0.01 (1.31%, 885/67420 alleles) in the European (non-Finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%) (BA1). This variant is reported in 4 homozygotes in gnomAD v3.1.2 (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

BA1

MAF of 0.01 (1.31%, 885/67420 alleles) in the European (non-Finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%) (BA1)

BP2

This variant is reported in 4 homozygotes in gnomAD v3.1.2

PS2

No case studies found

PS4

No case studies found

PS3

No evidence found

PS1

N/A

PP4

No case studies found

PP1

No case studies found

PP3

3' UTR variant

PP2

This rule is not applicable for MM-VCEP

PM6

No case studies found

PM2

Meets BA1

PM3

This rule is not applicable for MM-VCEP

PM1

N/A

PM4

N/A

PM5

N/A

PVS1

N/A

BS2

This rule is not applicable for MM-VCEP

BS4

No case studies found

BS3

No evidence found

BS1

Meets BA1

BP3

This rule is not applicable for MM-VCEP

BP4

3' UTR variant

BP1

This rule is not applicable for MM-VCEP

BP5

This rule is not applicable for MM-VCEP

BP7

N/A

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