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

UUID: 9b53e7f3-6c92-4c63-95f0-3c9f51ca59e4

Approved on: 2019-07-26

Published on: 2019-08-02

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: PP3

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

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

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

• 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: 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
• 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
• 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
• PVS1: 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