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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  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_001754.5(RUNX1):c.1159_1161del (p.Gly387del)

CA16616514

409819 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 78031b2f-32da-4fd9-a089-e6bc33bfd63a
Approved on: 2024-08-01
Published on: 2024-08-01

HGVS expressions

NM_001754.5:c.1159_1161del
NM_001754.5(RUNX1):c.1159_1161del (p.Gly387del)
NC_000021.9:g.34792418_34792420del
CM000683.2:g.34792418_34792420del
NC_000021.8:g.36164715_36164717del
CM000683.1:g.36164715_36164717del
NC_000021.7:g.35086585_35086587del
NG_011402.2:g.1197293_1197295del
ENST00000675419.1:c.1159_1161del
ENST00000300305.7:c.1159_1161del
ENST00000344691.8:c.1078_1080del
ENST00000399240.5:c.886_888del
ENST00000437180.5:c.1159_1161del
ENST00000482318.5:c.*749_*751del
NM_001001890.2:c.1078_1080del
NM_001754.4:c.1159_1161del
NM_001001890.3:c.1078_1080del
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Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 25
BS2 BS1 BS4 BS3 BP4 BP3 BP1 BP2 BP5 BP7 BA1 PS1 PS2 PS3 PS4 PP1 PP2 PP3 PP4 PVS1 PM6 PM1 PM3 PM5 PM4

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.1159_1161del (p.Gly387del) is an in-frame deletion which does not affect any residues within the Runt Homology Domain (AA 89-204) (PM4 not applied). 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: 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).
Not Met criteria codes
BS2
This rule is not applicable for MM-VCEP
BS1
This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.
BS4
No case studies found
BS3
No functional studies found
BP4
No missense, synonymous, or intronic variant
BP3
This rule is not applicable for MM-VCEP
BP1
This rule is not applicable for MM-VCEP
BP2
No homozygotes present in gnomAD v3.1.2.
BP5
This rule is not applicable for MM-VCEP
BP7
Not a synonymous or intronic variant
BA1
This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.
PS1
This variant is not a missense variant.
PS2
No case studies found
PS3
No functional studies found
PS4
No case studies found
PP1
No case studies found
PP2
This rule is not applicable for MM-VCEP
PP3
No missense, synonymous, or intronic variant
PP4
This rule is not applicable for MM-VCEP
PVS1
This variant is not a null variant.
PM6
No case studies found
PM1
Not a missense variant
PM3
This rule is not applicable for MM-VCEP
PM5
This variant is not a missense variant.
PM4
This in-frame deletion/insertion does not affect any of the following amino acid residues, nor is it located within the RHD: R107, K110, A134, R162, R166, S167, R169, G170, K194, T196, D198, R201, R204 OR within residues 89-204.
Curation History
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