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]
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  • See Evidence submitted by expert panel for details.

Variant: NM_001754.4(RUNX1):c.1005G>T (p.Gln335His)

CA10014223

239039 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 1ef12dd0-41cd-4ff0-897f-dd0a414457bc
Approved on: 2019-07-26
Published on: 2019-08-02

HGVS expressions

NM_001754.4:c.1005G>T
NM_001754.4(RUNX1):c.1005G>T (p.Gln335His)
NC_000021.9:g.34792573C>A
CM000683.2:g.34792573C>A
NC_000021.8:g.36164870C>A
CM000683.1:g.36164870C>A
NC_000021.7:g.35086740C>A
NG_011402.2:g.1197139G>T
NM_001001890.2:c.924G>T
ENST00000300305.7:c.1005G>T
ENST00000344691.8:c.924G>T
ENST00000399240.5:c.732G>T
ENST00000437180.5:c.1005G>T
ENST00000482318.5:c.*595G>T

Benign

Met criteria codes 1
BA1
Not Met criteria codes 17
BS3 BS1 BS4 BP7 BP4 BP2 PS1 PS3 PS4 PP3 PP1 PM5 PM4 PM1 PM2 PM6 PVS1

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.1005G>T (p.Gln335His) variant has a MAF of 0.00357 (0.357%, 15/4,206 alleles) in the East Asian subpopulation of the ExAC cohort that is ≥ 0.0015 (0.15%) (BA1). This missense variant has a REVEL score 0.4. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1.
Met criteria codes
BA1
ExAC Allele Frequency of East Asian: 0.00357 (15 out of 4206 Alleles) > 0.0015
Not Met criteria codes
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
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
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
REVEL: 0.4
BP2
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 germline variants reported. PMID 26343384: variant list from RNAseq of tumour samples. PMID 27255165: seen in two independent tumour samples.
PP3
REVEL: 0.4
PP1
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
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
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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