The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No ClinVar Id was directly found from the curated document
  • No CSPEC computed assertion could be determined for this classification!


CA410202720

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 6ecb3aae-2f4b-4dbf-b91e-b3fa2efc1423
Approved on: 2024-10-29
Published on: 2024-10-29

HGVS expressions

NM_001754.5:c.388G>C
NC_000021.9:g.34880677C>G
CM000683.2:g.34880677C>G
NC_000021.8:g.36252974C>G
CM000683.1:g.36252974C>G
NC_000021.7:g.35174844C>G
NG_011402.2:g.1109035G>C
ENST00000675419.1:c.388G>C
ENST00000300305.7:c.388G>C
ENST00000344691.8:c.307G>C
ENST00000358356.9:c.307G>C
ENST00000399237.6:c.352G>C
ENST00000399240.5:c.307G>C
ENST00000437180.5:c.388G>C
ENST00000455571.5:c.349G>C
ENST00000482318.5:c.95G>C
NM_001001890.2:c.307G>C
NM_001122607.1:c.307G>C
NM_001754.4:c.388G>C
NM_001001890.3:c.307G>C
NM_001122607.2:c.307G>C
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Uncertain Significance

Met criteria codes 3
PM2_Supporting PP3 PM1_Supporting
Not Met criteria codes 8
BS3 BP3 BP1 PS2 PS3 PP4 PP2 PM6

Evidence Links 0

Expert Panel

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.388G>C (p.Val130Leu) is a missense variant which has a REVEL score ≥ 0.88 (0.915) (PP3). This variant affects a residue within the Runt Homology Domain (AA 89-204) but does not affect an established hotspot residue (PM1_supporting). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). 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: PP3, PM1_supporting, PM2_supporting.
Met criteria codes
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting).
PP3
This variant has a REVEL score ≥ 0.88 (0.915) (PP3).
PM1_Supporting
This variant affects a residue within the Runt Homology Domain (AA 89-204) but does not affect an established hotspot residue (PM1_supporting).
Not Met criteria codes
BS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
BP3
This rule is not applicable for MM-VCEP.
BP1
This rule is not applicable for MM-VCEP.
PS2
De novo data for this variant has not been reported in literature.
PS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
PP4
This rule is not applicable for MM-VCEP.
PP2
This rule is not applicable for MM-VCEP.
PM6
De novo data for this variant has not been reported in literature.
Curation History
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