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_001754.5(RUNX1):c.*3527T>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10652908

339806 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: c46eadad-3203-4dba-9200-7c79822dcb65

Approved on: 2022-06-30

Published on: 2022-06-30

HGVS expressions

NM_001754.5:c.*3527T>G

NM_001754.5(RUNX1):c.*3527T>G

NC_000021.9:g.34788608A>C

CM000683.2:g.34788608A>C

NC_000021.8:g.36160905A>C

CM000683.1:g.36160905A>C

NC_000021.7:g.35082775A>C

NG_011402.2:g.1201104T>G

ENST00000675419.1:c.*3527T>G

ENST00000300305.7:c.*3527T>G

ENST00000344691.8:c.*3527T>G

ENST00000437180.5:c.*3527T>G

NM_001001890.2:c.*3527T>G

NM_001754.4:c.*3527T>G

NM_001001890.3:c.*3527T>G

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

PS4 PS2 PS1 PS3 PP1 PP4 PP3 PP2 PVS1 PM5 PM1 PM3 PM4 PM6 PM2 BA1 BS2 BS4 BS3 BP7 BP5 BP2 BP3 BP4 BP1

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

NM_001754.5(RUNX1):c.*3527T>G is a 3' UTR variant. MAF of 0.0001764 (0.01764%, 12/68040) in the European (non-finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%) (BS1). In summary, this variant meets the criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1

BS1

MAF of 0.0001764 (0.01764%, 12/68040) in the European (non-finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%), BS1 is applied.

PS4

No case studies found

PS2

No case studies found

PS1

3'UTR Variant

PS3

Evidence not found

PP1

No case studies found

PP4

This rule is not applicable for MM-VCEP

PP3

3' UTR variant

PP2

This rule is not applicable for MM-VCEP

PVS1

3' UTR variant

PM5

3'UTR Variant

PM1

Variant in 3' UTR region

PM3

This rule is not applicable for MM-VCEP

PM4

variant in 3' UTR region

PM6

No case studies found

PM2

Meets BS1

BA1

BS1 is applied

BS2

This rule is not applicable for MM-VCEP

BS4

No case studies found

BS3

Evidence not found

BP7

3' UTR variant

BP5

This rule is not applicable for MM-VCEP

BP2

No homozygotes seen in gnomAD

BP3

This rule is not applicable for MM-VCEP

BP4

3' UTR variant

BP1

This rule is not applicable for MM-VCEP

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.