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]
  • See Evidence submitted by expert panel for details.

Variant: NM_001754.4(RUNX1):c.698G>A (p.Arg233His)

CA10014373

415832 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 52a12148-1cdf-4d95-bf36-4dfae2e0e6e7
Approved on: 2019-07-26
Published on: 2019-08-02

HGVS expressions

NM_001754.4:c.698G>A
NM_001754.4(RUNX1):c.698G>A (p.Arg233His)
NC_000021.9:g.34834517C>T
CM000683.2:g.34834517C>T
NC_000021.8:g.36206814C>T
CM000683.1:g.36206814C>T
NC_000021.7:g.35128684C>T
NG_011402.2:g.1155195G>A
NM_001001890.2:c.617G>A
NM_001122607.1:c.617G>A
ENST00000300305.7:c.698G>A
ENST00000344691.8:c.617G>A
ENST00000358356.9:c.617G>A
ENST00000399237.6:c.662G>A
ENST00000399240.5:c.532+24957G>A
ENST00000437180.5:c.698G>A
ENST00000469087.1:n.234G>A
ENST00000482318.5:c.*288G>A
More

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 1
BS1
Not Met criteria codes 17
PVS1 PM2 PM6 PM5 PM4 PM1 BA1 BS3 BS4 BP4 BP2 BP7 PS1 PS3 PS4 PP3 PP1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
The NM_001754.4:c.698G>A (p.Arg233His) variant has a MAF of 0.00142 (0.142%, 34/23,970 alleles) in the African subpopulation of the gnomAD cohort that is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). We allow a variant to reach a likely benign classification based on BS1 alone if there is no contradictory evidence supporting pathogenicity. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Met criteria codes
BS1
gnomAD Allele Frequency of African Subpopulation: 0.00142 (34 out of 23970 Alleles) > 0.00015
Not Met criteria codes
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
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
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
gnomAD Allele Frequency of African Subpopulation: 0.00142 (34 out of 23970 Alleles) < 0.0015
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
REVEL: 0.514
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
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
PS3
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
PP3
REVEL: 0.514
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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