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

Variant: NM_001754.4(RUNX1):c.623A>T (p.Gln208Leu)

CA10014390

463999 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 6449a089-e4fb-4817-9d15-761cb5349155
Approved on: 2024-09-16
Published on: 2024-09-16

HGVS expressions

NM_001754.4:c.623A>T
NM_001754.4(RUNX1):c.623A>T (p.Gln208Leu)
NC_000021.9:g.34834592T>A
CM000683.2:g.34834592T>A
NC_000021.8:g.36206889T>A
CM000683.1:g.36206889T>A
NC_000021.7:g.35128759T>A
NG_011402.2:g.1155120A>T
ENST00000675419.1:c.623A>T
ENST00000300305.7:c.623A>T
ENST00000344691.8:c.542A>T
ENST00000358356.9:c.542A>T
ENST00000399237.6:c.587A>T
ENST00000399240.5:c.532+24882A>T
ENST00000437180.5:c.623A>T
ENST00000469087.1:n.159A>T
ENST00000482318.5:c.*213A>T
NM_001001890.2:c.542A>T
NM_001122607.1:c.542A>T
NM_001001890.3:c.542A>T
NM_001122607.2:c.542A>T
NM_001754.5:c.623A>T
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Uncertain Significance

Met criteria codes 1
PP3
Not Met criteria codes 25
PP4 PP1 PP2 PM6 PM2 PM3 PM1 PM4 PM5 PVS1 BA1 BS2 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1 BS4_Supporting PS2 PS4 PS3 PS1

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_001754.4(RUNX1):c.623A>T (p.Gln208Leu) is a missense variant which has a REVEL score >0.75 (0.848) (PP3). 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: PP3.
Met criteria codes
PP3
This missense variant has a REVEL score >0.75 (0.848).
Not Met criteria codes
PP4
MM-VCEP deemed N/A for RUNX1
PP1
No data currently available
PP2
MM-VCEP deemed N/A for RUNX1
PM6
No data currently available
PM2
The variant is reported in gnomAD
PM3
MM-VCEP deemed N/A for RUNX1
PM1
N/A
PM4
N/A
PM5
No data currently available
PVS1
N/A
BA1
The variant is reported at an MAF of 0.00001777 (0.002%, 2/112530 alleles) in the non-Finnish European subpopulation of the gnomAD v2.1.1 cohort, and does not meet the BA1 threshold of ≥0.0015.
BS2
MM-VCEP deemed N/A for RUNX1
BS3
No data currently available
BS1
The variant is reported at an MAF of 0.00001777 (0.002%, 2/112530 alleles) in the non-Finnish European subpopulation of the gnomAD v2.1.1 cohort, and does not meet the BS1 threshold between 0.00015 and 0.0015.
BP5
MM-VCEP deemed N/A for RUNX1
BP7
N/A
BP2
No data currently available
BP3
MM-VCEP deemed N/A for RUNX1
BP4
Variant meets PP3
BP1
MM-VCEP deemed N/A for RUNX1
BS4_Supporting
No data currently available
PS2
No data currently available
PS4
The variant has not been reported in patients with familial platelet disorder with predisposition to hematologic malignancies in the literature, to the best of our knowledge.
PS3
No data currently available
PS1
No data currently available
Curation History
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