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.70G>A (p.Gly24Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA410205754

464003 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: fa56c2a6-badf-48dd-96fd-421bdda07488

Approved on: 2024-07-17

Published on: 2024-07-17

HGVS expressions

NM_001754.5:c.70G>A

NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)

NC_000021.9:g.34892952C>T

CM000683.2:g.34892952C>T

NC_000021.8:g.36265249C>T

CM000683.1:g.36265249C>T

NC_000021.7:g.35187119C>T

NG_011402.2:g.1096760G>A

ENST00000675419.1:c.70G>A

ENST00000300305.7:c.70G>A

ENST00000416754.1:c.70G>A

ENST00000437180.5:c.70G>A

ENST00000455571.5:c.59-5856G>A

ENST00000475045.6:c.70G>A

ENST00000482318.5:c.59-12239G>A

NM_001754.4:c.70G>A

Uncertain Significance

PS2 PS4 PS3 PS1 PP4 PP1 PP3 PP2 PVS1 PM3 PM1 PM4 PM5 PM6 PM2 BA1 BS2 BS4 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1

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

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) 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.

PS2

nil data

PS4

nil data

PS3

nil data

PS1

nil data

PP4

not applicable

PP1

nil data

PP3

REVEL= 0.2689

PP2

not applicable

PVS1

Missense variant

PM3

not applicable

PM1

not in RHD OR within residues 89-204

PM4

Missense variant

PM5

nil data

PM6

nil data

PM2

GnomAD V2: European (Non-Finnish) 1/113118 alleles, 0.00001

BA1

GnomAD V2: European (Non-Finnish) 1/113118 alleles, 0.00001

BS2

nil data

BS4

nil data

BS3

nil data

BS1

GnomAD V2: European (Non-Finnish) 1/113118 alleles, 0.00001

BP5

not applicable

BP7

Missense variant

BP2

not applicable

BP3

Missense variant

BP4

This missense variant has a REVEL score <0.50 (0.2689). SpliceAI Δ type Δ score pre-mRNA position Acceptor Loss 0.29 11 bp Donor Loss 0.24 -27 bp

BP1

not applicable

Curation History

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