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]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • 'cspec' property is found but contains no ID!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_001754.5(RUNX1):c.1044C>T (p.His348=)

CA10014215

258182 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: e807406d-f407-4c9c-a49b-ed7cec76b60b
Approved on: 2022-02-10
Published on: 2022-07-05

HGVS expressions

NM_001754.5:c.1044C>T
NM_001754.5(RUNX1):c.1044C>T (p.His348=)
NC_000021.9:g.34792534G>A
CM000683.2:g.34792534G>A
NC_000021.8:g.36164831G>A
CM000683.1:g.36164831G>A
NC_000021.7:g.35086701G>A
NG_011402.2:g.1197178C>T
ENST00000675419.1:c.1044C>T
ENST00000300305.7:c.1044C>T
ENST00000344691.8:c.963C>T
ENST00000399240.5:c.771C>T
ENST00000437180.5:c.1044C>T
ENST00000482318.5:c.*634C>T
NM_001001890.2:c.963C>T
NM_001754.4:c.1044C>T
NM_001001890.3:c.963C>T
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Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 25
BS2 BS1 BS4 BS3 PS1 PS2 PS3 PS4 BP3 BP1 BP2 BP5 BP7 PP1 PP2 PP3 PP4 BA1 PM6 PM2 PVS1 PM1 PM3 PM5 PM4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.1044C>T (p.His348=) is a synonymous variant. Synonymous variant therefore no REVEL score. SpliceAI is ≤0.20 (0.00) meeting BP4. 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: BP4
Met criteria codes
BP4
Synonymous variant therefore no REVEL score. SpliceAI is ≤0.20 (0.00)
Not Met criteria codes
BS2
This rule is not applicable for the MMVCEP
BS1
Present in gnomAD v2 and v3 but subpopulation does not criteria.
BS4
No case studies published
BS3
No functional studies found
PS1
Amino acid has not been previously established as a pathogenic variant
PS2
No case studies published
PS3
No functional studies found
PS4
No case studies published
BP3
This rule is not applicable for the MMVCEP
BP1
This rule is not applicable for the MMVCEP
BP2
No homozygotes present in gnomAD v2 and v3
BP5
This rule is not applicable for the MMVCEP
BP7
Evolutionary conservation prediction algorithms predict the site as being conserved (phyloP score 3.61 > 2.0)
PP1
No case studies published
PP2
This rule is not applicable for the MMVCEP
PP3
Synonymous variant therefore no REVEL score. SpliceAI is not ≥0.38 (0.00)
PP4
This rule is not applicable for the MMVCEP
BA1
Present in gnomAD v2 and v3 but subpopulation does not criteria.
PM6
No case studies published
PM2
Present in gnomAD v2 and v3 but subpopulation does not criteria.
PVS1
Not a null variant
PM1
Not in a critical hotspot and not a missense variant
PM3
This rule is not applicable for the MMVCEP
PM5
Not a missense variant
PM4
Not an in-frame deletion/insertion
Curation History
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