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.1082C>G (p.Thr361Ser)

Curation Version - 1.2
Curation History
JSON LD for Version 1.2

CA410148192

463976 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 57efc5f7-90b4-4d47-87ef-7f4db036630a

Approved on: 2025-03-26

Published on: 2025-03-26

HGVS expressions

NM_001754.5:c.1082C>G

NM_001754.5(RUNX1):c.1082C>G (p.Thr361Ser)

NC_000021.9:g.34792496G>C

CM000683.2:g.34792496G>C

NC_000021.8:g.36164793G>C

CM000683.1:g.36164793G>C

NC_000021.7:g.35086663G>C

NG_011402.2:g.1197216C>G

ENST00000675419.1:c.1082C>G

ENST00000300305.7:c.1082C>G

ENST00000344691.8:c.1001C>G

ENST00000399240.5:c.809C>G

ENST00000437180.5:c.1082C>G

ENST00000482318.5:c.*672C>G

NM_001001890.2:c.1001C>G

NM_001754.4:c.1082C>G

NM_001001890.3:c.1001C>G

Uncertain Significance

BP4

PP1 PP4 PP2 PM6 PM2 PM1 PM5 PM3 PM4 BS2 BS4 BS3 BS1 BP7 BP5 BP2 BP3 BP1 PVS1 PS4 PS2 PS3 PS1 BA1

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.1082C>G (p.Thr361Ser) is a missense variant which has a REVEL score < 0.50 (0.031) and a SpliceAI score ≤ 0.20 (0.0) (BP4). 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: BP4.

BP4

This missense variant has a REVEL score < 0.50 (0.031) and a SpliceAI score ≤ 0.20 (0.0) (BP4).

PP1

no case study found

PP4

This rule is not applicable for MM-VCEP

PP2

This rule is not applicable for MM-VCEP

PM6

no case study found

PM2

1/1171768, MAF: 0.0000000853 (0.00000853%) in European (non-Finish) sub-population. This variant is present in at least one population database.

PM1

This variant does not affect one of the hotspot residues established by the MM-VCEP for RUNX1

PM5

No pathogenic variant has been described at this amino acid

PM3

This rule is not applicable for MM-VCEP

PM4

This is a missense variant

BS2

This rule is not applicable for MM-VCEP

BS4

no case study found

BS3

No evidence found

BS1

1/1171768, MAF: 0.0000000853 (0.00000853%) in European (non-Finish) sub-population. This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.

BP7

This is a missense variant

BP5

This rule is not applicable for MM-VCEP

BP2

No case study found

BP3

This rule is not applicable for MM-VCEP

BP1

This rule is not applicable for MM-VCEP

PVS1

This is a missense variant

PS4

no case study found

PS2

no case study found

PS3

No evidence found

PS1

No pathogenic variant has been described at this amino acid

BA1

PM2 met

Curation History

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