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
UUID: e807406d-f407-4c9c-a49b-ed7cec76b60b
Approved on: 2025-01-15
Published on: 2025-01-15

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
PS1 PS2 PS3 PS4 BP5 BP7 BP3 BP1 BP2 PP1 PP2 PP3 PP4 PVS1 PM1 PM3 PM5 PM4 PM6 PM2 BA1 BS2 BS1 BS4 BS3

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. This synonymous variant has a SpliceAI score ≤ 0.20 (0.00) (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
This synonymous variant has a SpliceAI score ≤ 0.20 (0.00) (BP4).
Not Met criteria codes
PS1
This variant is not a missense variant.
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.
PS4
Proband data for this variant has not been reported in literature.
BP5
This rule is not applicable for MM-VCEP
BP7
This variant does not have a phyloP score < 2.0.
BP3
This rule is not applicable for MM-VCEP
BP1
This rule is not applicable for MM-VCEP
BP2
This variant has not been observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
PP1
Segregation data for this variant has not been reported in literature.
PP2
This rule is not applicable for MM-VCEP
PP3
This synonymous or intronic variant does not have a SpliceAI score ≥ 0.38.
PP4
This rule is not applicable for MM-VCEP
PVS1
This variant is not a null variant.
PM1
This variant is not a missense variant.
PM3
This rule is not applicable for MM-VCEP
PM5
This variant is not a missense variant.
PM4
This variant is not an in-frame deletion/insertion.
PM6
De novo data for this variant has not been reported in literature.
PM2
This variant is present in at least one population database.
BA1
This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.
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
Segregation data for this variant has not been reported in literature.
BS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
Curation History
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