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.259G>T (p.Gly87Cys)

CA10014559

436618 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 9b53e7f3-6c92-4c63-95f0-3c9f51ca59e4

HGVS expressions

NM_001754.4:c.259G>T
NM_001754.4(RUNX1):c.259G>T (p.Gly87Cys)
NC_000021.9:g.34886935C>A
CM000683.2:g.34886935C>A
NC_000021.8:g.36259232C>A
CM000683.1:g.36259232C>A
NC_000021.7:g.35181102C>A
NG_011402.2:g.1102777G>T
NM_001001890.2:c.178G>T
NM_001122607.1:c.178G>T
ENST00000300305.7:c.259G>T
ENST00000344691.8:c.178G>T
ENST00000358356.9:c.178G>T
ENST00000399237.6:c.223G>T
ENST00000399240.5:c.178G>T
ENST00000437180.5:c.259G>T
ENST00000455571.5:c.220G>T
ENST00000482318.5:c.59-6222G>T

Uncertain Significance

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

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.259G>T (p.Gly87Cys) variant is a missense variant has a REVEL score >0.75 (0.918) (PP3). AMR Subpopulation of 1000 Genomes Allele frequency 0.00144 with 1 allele out of 694 alleles. In summary, the clinical significance of this variant is uncertain (VUS). ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PP3.
Met criteria codes
PP3
REVEL: 0.918 >0.75
Not Met criteria codes
PVS1
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
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
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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
AMR Subpopulation of 1000 Genomes Allele frequency 0.00144 with 1 allele out of 694 alleles.
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2019-07-26
Published on: 2019-08-02
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