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.1112T>C (p.Met371Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA320251476

463977 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2c12cef0-8e34-4be2-916a-af634d0484ff

Approved on: 2024-09-16

Published on: 2024-09-16

HGVS expressions

NM_001754.5:c.1112T>C

NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)

NC_000021.9:g.34792466A>G

CM000683.2:g.34792466A>G

NC_000021.8:g.36164763A>G

CM000683.1:g.36164763A>G

NC_000021.7:g.35086633A>G

NG_011402.2:g.1197246T>C

ENST00000675419.1:c.1112T>C

ENST00000300305.7:c.1112T>C

ENST00000344691.8:c.1031T>C

ENST00000399240.5:c.839T>C

ENST00000437180.5:c.1112T>C

ENST00000482318.5:c.*702T>C

NM_001001890.2:c.1031T>C

NM_001754.4:c.1112T>C

NM_001001890.3:c.1031T>C

Uncertain Significance

PP1 PP4 PP3 PP2 PM6 PM2 PM5 PM1 PM4 PM3 BS2 BS4 BS3 BS1 BP5 BP7 BP3 BP4 BP1 BP2 PVS1 PS1 PS2 PS4 PS3 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.1112T>C (p.Met371Thr) is a missense variant which does not meet any ACMG/AMP criteria. 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.

PP1

No case stdie studies found

PP4

This rule is not applicable for MM-VCEP

PP3

This is a missense variant with a REVEL score that is not >0.88 (0.658) and SpliceAI score is >0.38 (0.00)

PP2

This rule is not applicable for MM-VCEP

PM6

No case studies found

PM2

This variant is present in gnomAD v2.1.1 ONLY and doesn't meet the criteria of code.

PM5

This variant does not meet criteria for this code

PM1

This variant does not fall on a hot spot and is not between defined RHD (AA89-204)

PM4

This rule is not applicable to this missense variant

PM3

This rule is not applicable for MM-VCEP

BS2

This rule is not applicable for MM-VCEP

BS4

No case studies found

BS3

No functional data

BS1

This variant is present in gnomAD v2.1.1 ONLY and doesn't meet the criteria of code.

BP5

This rule is not applicable for MM-VCEP

BP7

Not a silent or intronic variant therefore code cannot be applied

BP3

This rule is not applicable for MM-VCEP

BP4

This is a missense variant with a REVEL score that is not <0.5 (0.658) and SpliceAI score is <0.20 (0.00)

BP1

This rule is not applicable for MM-VCEP

BP2

This variant is present in gnomAD v2.1.1 ONLY and doesn't meet the criteria of code.

PVS1

This variant is not a null or frameshift variant

PS1

This variant does not meet criteria for this code.

PS2

No case studies found

PS4

No case studies found

PS3

No functional data

BA1

This variant is present in gnomAD v2.1.1 ONLY and doesn't meet the criteria of code.

Curation History

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