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]
  • No CSPEC related information was provided by the message!
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)

CA2580098829

1996223 (ClinVar)

Gene: RUNX1 (HGNC:861)
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome (MONDO:0011071)
Inheritance Mode: Autosomal dominant inheritance
UUID: 81c58b3a-7ad1-4850-8369-dd1b60699b0f
Approved on: 2023-12-09
Published on: 2023-12-09

HGVS expressions

NM_001754.5:c.979_983dup
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NC_000021.9:g.34792598_34792602dup
CM000683.2:g.34792598_34792602dup
NC_000021.8:g.36164895_36164899dup
CM000683.1:g.36164895_36164899dup
NC_000021.7:g.35086765_35086769dup
NG_011402.2:g.1197113_1197117dup
ENST00000675419.1:c.979_983dup
ENST00000300305.7:c.979_983dup
ENST00000344691.8:c.898_902dup
ENST00000399240.5:c.706_710dup
ENST00000437180.5:c.979_983dup
ENST00000482318.5:c.*569_*573dup
NM_001001890.2:c.898_902dup
NM_001754.4:c.979_983dup
NM_001001890.3:c.898_902dup
More

Likely Pathogenic

Met criteria codes 3
PVS1_Strong PM5_Supporting PM2_Supporting
Not Met criteria codes 23
PM1 PM3 PM4 PM6 BA1 BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP7 BP5 PS2 PS4 PS3 PS1 PP1 PP4 PP3 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
This frameshift variant is in a region that is critical to protein function, and transcript is not expected to undergo NMD (PVS1_Strong). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). This frameshift variant is downstream c.98 (PM5_supporting). 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: PVS1_strong, PM2_supporting, PM5_supporting.
Met criteria codes
PVS1_Strong
This frameshift variant is in a region that is critical to protein function, and transcript is not expected to undergo NMD (PVS1_Strong).
PM5_Supporting
This frameshift variant is downstream c.98 (PM5_supporting).
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting).
Not Met criteria codes
PM1
This variant is not a missense variant.
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
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
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
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
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
PP4
This rule is not applicable for MM-VCEP
PP3
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
Curation History
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