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.623A>G (p.Gln208Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA410207187

1496920 (ClinVar)

Gene: RUNX1

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

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 70c06ad8-c476-40df-941b-e22f6c654f5a

Approved on: 2024-10-29

Published on: 2024-10-29

HGVS expressions

NM_001754.5:c.623A>G

NM_001754.5(RUNX1):c.623A>G (p.Gln208Arg)

NC_000021.9:g.34834592T>C

CM000683.2:g.34834592T>C

NC_000021.8:g.36206889T>C

CM000683.1:g.36206889T>C

NC_000021.7:g.35128759T>C

NG_011402.2:g.1155120A>G

ENST00000675419.1:c.623A>G

ENST00000300305.7:c.623A>G

ENST00000344691.8:c.542A>G

ENST00000358356.9:c.542A>G

ENST00000399237.6:c.587A>G

ENST00000399240.5:c.532+24882A>G

ENST00000437180.5:c.623A>G

ENST00000469087.1:n.159A>G

ENST00000482318.5:c.*213A>G

NM_001001890.2:c.542A>G

NM_001122607.1:c.542A>G

NM_001754.4:c.623A>G

NM_001001890.3:c.542A>G

NM_001122607.2:c.542A>G

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.623A>G (p.Gln208Arg) 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

no data

PS4

no data

PS3

no data

PS1

nil data

PP4

not applicable

PP1

no data

PP3

REVEL score: 0.793, SpliceAI predictions delta score <0.2

PP2

not applicable

PVS1

not applicable

PM3

not applicable

PM1

not applicable

PM4

not appliable

PM5

nil data

PM6

not data

PM2

This variant is present in at least one population database (gnomAD v4.0.0).

BA1

absent from gnomAD V2/3, one allele in V4

BS2

not applicable

BS4

no data

BS3

no data

BS1

absent from gnomAD V2/3, one allele in V4

BP5

not applicable

BP7

not applicable

BP2

not applicable

BP3

not applicable

BP4

REVEL score: 0.793

BP1

not applicable

Curation History

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