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.18A>G (p.Ile6Met)

CA10014733

463989 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: ff29e264-e204-4efc-bb2e-f3f16e5d88d0
Approved on: 2019-08-02
Published on: 2019-08-02

HGVS expressions

NM_001754.4:c.18A>G
NM_001754.4(RUNX1):c.18A>G (p.Ile6Met)
NC_000021.9:g.35048882T>C
CM000683.2:g.35048882T>C
NC_000021.8:g.36421179T>C
CM000683.1:g.36421179T>C
NC_000021.7:g.35343049T>C
NG_011402.2:g.940830A>G
ENST00000300305.7:c.18A>G
ENST00000416754.1:c.18A>G
ENST00000437180.5:c.18A>G
ENST00000455571.5:c.18A>G
ENST00000475045.6:c.18A>G
ENST00000482318.5:c.18A>G
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
PP3 PP1 PM2 PM6 PM5 PM4 PM1 PS1 PS3 PS4 BA1 PVS1 BP4 BP2 BP7 BS3 BS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
MAF for NM_001754.4:c.18A>G (p.Ile6Met) variant is 0.00025 (0.02%, 17/66732 Alleles) in the non-Finnish European subpopulation of ExAC database, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). Note: The variant is classified as likely benign based on BS1 alone with 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 Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Met criteria codes
BS1
ExAC Allele Frequency of European (Non-Finnish) Subpopulation: 0.00025 (17 out of 66732 Alleles) > 0.00015
Not Met criteria codes
PP3
REVEL: 0.293
PP1
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
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
BA1
ExAC Allele Frequency of European (Non-Finnish) Subpopulation: 0.00025 (17 out of 66732 Alleles) < 0.0015
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
REVEL: 0.293
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
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
Curation History
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