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_001754.5(RUNX1):c.146C>T (p.Pro49Leu)

CA10014583

858424 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: fed8e236-417b-41dd-a244-d8c9966792d4

HGVS expressions

NM_001754.5:c.146C>T
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)
NC_000021.9:g.34887048G>A
CM000683.2:g.34887048G>A
NC_000021.8:g.36259345G>A
CM000683.1:g.36259345G>A
NC_000021.7:g.35181215G>A
NG_011402.2:g.1102664C>T
ENST00000675419.1:c.146C>T
ENST00000300305.7:c.146C>T
ENST00000344691.8:c.65C>T
ENST00000358356.9:c.65C>T
ENST00000399237.6:c.110C>T
ENST00000399240.5:c.65C>T
ENST00000437180.5:c.146C>T
ENST00000455571.5:c.107C>T
ENST00000475045.6:c.146C>T
ENST00000482318.5:c.59-6335C>T
NM_001001890.2:c.65C>T
NM_001122607.1:c.65C>T
NM_001754.4:c.146C>T
NM_001001890.3:c.65C>T
NM_001122607.2:c.65C>T

Uncertain Significance

Not Met criteria codes 26
PS4 PS2 PS3 PS1 PM1 PM5 PM3 PM4 PM6 PM2 BA1 PVS1 BP2 BP3 BP4 BP1 BP7 BP5 BS2 BS4 BS3 BS1 PP1 PP4 PP3 PP2

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: No codes met.
Not Met criteria codes
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
There is no literature for this variant
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
This variant is outside the conserved RHD
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
PM2
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
PVS1
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
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
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
BS2
This rule is not applicable for MM-VCEP
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
There is no literature for this variant
BS1
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
Approved on: 2023-11-13
Published on: 2023-11-13
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