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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Variant: NM_001754.5(RUNX1):c.268G>A (p.Val90Met)

CA410203747

946753 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 5fb315da-58f3-49fa-bfd6-83685219191d

HGVS expressions

NM_001754.5:c.268G>A
NM_001754.5(RUNX1):c.268G>A (p.Val90Met)
NC_000021.9:g.34886926C>T
CM000683.2:g.34886926C>T
NC_000021.8:g.36259223C>T
CM000683.1:g.36259223C>T
NC_000021.7:g.35181093C>T
NG_011402.2:g.1102786G>A
ENST00000675419.1:c.268G>A
ENST00000300305.7:c.268G>A
ENST00000344691.8:c.187G>A
ENST00000358356.9:c.187G>A
ENST00000399237.6:c.232G>A
ENST00000399240.5:c.187G>A
ENST00000437180.5:c.268G>A
ENST00000455571.5:c.229G>A
ENST00000482318.5:c.59-6213G>A
NM_001001890.2:c.187G>A
NM_001122607.1:c.187G>A
NM_001754.4:c.268G>A
NM_001001890.3:c.187G>A
NM_001122607.2:c.187G>A

Uncertain Significance

Met criteria codes 2
PM1_Supporting PM2_Supporting
Not Met criteria codes 24
BA1 PVS1 BS4 BS3 BS1 BS2 BP7 BP5 BP2 BP3 BP4 BP1 PS4 PS2 PS3 PS1 PP1 PP4 PP3 PP2 PM5 PM3 PM4 PM6

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_Supporting, PM1_Supporting.
Met criteria codes
PM1_Supporting
This variant affects one of the other residues (AA 89-204) within the RHD (PM1_Supporting).
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting).
Not Met criteria codes
BA1
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
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No literature was found for this variant
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
This rule is not applicable for MM-VCEP
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
This rule is not applicable for MM-VCEP
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
This rule is not applicable for MM-VCEP
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
This rule is not applicable for MM-VCEP
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
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
PS1
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
PP4
This rule is not applicable for MM-VCEP
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
This rule is not applicable for MM-VCEP
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
This rule is not applicable for MM-VCEP
PM4
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
Approved on: 2023-11-13
Published on: 2023-11-13
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