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.1034C>G (p.Pro345Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10014218

571484 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 06ad6fdc-3ab2-4268-821f-70db8eb74bd0

Approved on: 2025-02-24

Published on: 2025-02-24

HGVS expressions

NM_001754.5:c.1034C>G

NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg)

NC_000021.9:g.34792544G>C

CM000683.2:g.34792544G>C

NC_000021.8:g.36164841G>C

CM000683.1:g.36164841G>C

NC_000021.7:g.35086711G>C

NG_011402.2:g.1197168C>G

ENST00000675419.1:c.1034C>G

ENST00000300305.7:c.1034C>G

ENST00000344691.8:c.953C>G

ENST00000399240.5:c.761C>G

ENST00000437180.5:c.1034C>G

ENST00000482318.5:c.*624C>G

NM_001001890.2:c.953C>G

NM_001754.4:c.1034C>G

NM_001001890.3:c.953C>G

Uncertain Significance

BP2 BP3 BP4 BP1 BP7 BP5 PS4 PS1 PS2 PS3 PP1 PP4 PP3 PP2 PM5 PM1 PM3 PM4 PM6 PM2 BS2 PVS1 BS4 BS3 BS1

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.1034C>G (p.Pro345Arg) is a missense variant. The variant is present in gnomAD v.4.1.0. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: None.

BP2

No case study found

BP3

This rule is not applicable for MM-VCEP

BP4

This missense variant has a REVEL score >0.50 (0.532).

BP1

This rule is not applicable for MM-VCEP

BP7

This is a missense variant with no impact to splicing predicted

BP5

This rule is not applicable for MM-VCEP

PS4

no case study found

PS1

No case study found

PS2

No case study found

PS3

No case study found

PP1

No case study found

PP4

This rule is not applicable for MM-VCEP

PP3

This missense variant has a REVEL score >0.50 (0.532) and does not meet PP3 criteria

PP2

This rule is not applicable for MM-VCEP

PM5

No case study found

PM1

Not located in a hotspot residue as established by the MM-VCEP for RUNX1

PM3

This rule is not applicable for MM-VCEP

PM4

This is a missense variant

PM6

No case study found

PM2

gnomAD 4.1.0: 4/1177002 alleles in European (non-Finish), MAF 0.0003398%. 1/74830 alleles in African/African American, MAF 0.001336%. Total: 5/1607076 alleles, MAF 0.000311% This variant is present in at least one population database.

BS2

This rule is not applicable for MM-VCEP

PVS1

This is a missense variant

BS4

No case study found

BS3

No case study found

BS1

gnomAD 4.1.0: 4/1177002 alleles in European (non-Finish), MAF 0.0003398%. 1/74830 alleles in African/African American, MAF 0.001336%. . Total: 5/1607076 alleles, MAF 0.000311% This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.

Curation History

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