Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • See Evidence submitted by expert panel for details.

Variant: NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)

CA410207939

2177591 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 82e5c390-af01-4e4b-85d7-69b0044806e6
Approved on: 2023-12-09
Published on: 2023-12-09

HGVS expressions

NM_001754.5:c.610C>G
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NC_000021.9:g.34859477G>C
CM000683.2:g.34859477G>C
NC_000021.8:g.36231774G>C
CM000683.1:g.36231774G>C
NC_000021.7:g.35153644G>C
NG_011402.2:g.1130235C>G
ENST00000675419.1:c.610C>G
ENST00000300305.7:c.610C>G
ENST00000344691.8:c.529C>G
ENST00000358356.9:c.529C>G
ENST00000399237.6:c.574C>G
ENST00000399240.5:c.529C>G
ENST00000437180.5:c.610C>G
ENST00000467577.1:n.102C>G
ENST00000482318.5:c.*200C>G
NM_001001890.2:c.529C>G
NM_001122607.1:c.529C>G
NM_001754.4:c.610C>G
NM_001001890.3:c.529C>G
NM_001122607.2:c.529C>G
More

Likely Pathogenic

Met criteria codes 4
PP3 PM2_Supporting PM1 PM5
Not Met criteria codes 22
BP4 BP1 BP2 BP3 BP7 BP5 PS2 PS4 PS3 PS1 PP1 PP2 PP4 PM3 PM4 PM6 BA1 BS2 PVS1 BS4 BS3 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
This variant affects one of the hotspot residues established by the MM-VCEP for RUNX1 (PM1). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). This variant is a missense change at the same residue (p.Arg204) where a different missense change has been previously established as a pathogenic variant (ClinVar ID 561253) based on MM-VCEP rules for RUNX1 and RNA data or agreement in splicing predictors (SSF and MES) show no splicing effects (PM5). This missense variant has a REVEL score >0.88 (0.889) (PP3). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM1, PM2_supporting, PM5, PP3.
Met criteria codes
PP3
This missense variant has a REVEL score >0.88 (0.889) (PP3).
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting).
PM1
This variant affects one of the hotspot residues established by the MM-VCEP for RUNX1 (PM1).
PM5
This variant is a missense change at the same residue (p.Arg204) where a different missense change has been previously established as a pathogenic variant (ClinVar ID 561253) based on MM-VCEP rules for RUNX1 and RNA data or agreement in splicing predictors (SSF and MES) show no splicing effects (PM5).
Not Met criteria codes
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
This rule is not applicable for MM-VCEP
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
This rule is not applicable for MM-VCEP
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
This rule is not applicable for MM-VCEP
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
This rule is not applicable for MM-VCEP
PP4
This rule is not applicable for MM-VCEP
PM3
This rule is not applicable for MM-VCEP
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
This rule is not applicable for MM-VCEP
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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