The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!


Variant: NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile)

CA10014388

239050 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Inheritance Mode: Autosomal dominant inheritance
UUID: 45c839f4-5072-4b6d-8b3d-c63718cc8fcb
Approved on: 2024-07-17
Published on: 2024-07-17

HGVS expressions

NM_001754.5:c.641C>T
NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile)
NC_000021.9:g.34834574G>A
CM000683.2:g.34834574G>A
NC_000021.8:g.36206871G>A
CM000683.1:g.36206871G>A
NC_000021.7:g.35128741G>A
NG_011402.2:g.1155138C>T
ENST00000675419.1:c.641C>T
ENST00000300305.7:c.641C>T
ENST00000344691.8:c.560C>T
ENST00000358356.9:c.560C>T
ENST00000399237.6:c.605C>T
ENST00000399240.5:c.532+24900C>T
ENST00000437180.5:c.641C>T
ENST00000469087.1:n.177C>T
ENST00000482318.5:c.*231C>T
NM_001001890.2:c.560C>T
NM_001122607.1:c.560C>T
NM_001754.4:c.641C>T
NM_001001890.3:c.560C>T
NM_001122607.2:c.560C>T
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Uncertain Significance

Not Met criteria codes 26
PM6 PM2 PM3 PM1 PM4 PM5 BA1 BS2 PVS1 BS4 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1 PP4 PP1 PP3 PP2

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

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile) 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.
Not Met criteria codes
PM6
Nil data
PM2
4/281770 GnomAD V2
PM3
Not applicable
PM1
Not applicable
PM4
Not applicable
PM5
Nil data
BA1
Largest Continental AF 0.00005 (East Asia)
BS2
Not applicable
PVS1
Not applicable
BS4
Nil data
BS3
Nil data
BS1
Largest Continental AF 0.00005 (East Asia)
BP5
not applicable
BP7
Not applicable
BP2
Not applicable
BP3
Not applicable
BP4
REVEL score 0.454 SplicAI Δ score 0.00
BP1
Not applicable
PS2
Nil data
PS4
Nil data
PS3
Nil data
PS1
Nil data
PP4
Not applicable
PP1
Nil data
PP3
REVEL score 0.454 SplicAI Δ score 0.00
PP2
Not applicable
Curation History
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