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.671G>A (p.Arg224Gln)

CA10014380

580214 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 3b3d9a4c-d4b6-489b-9548-90802c74bde0
Approved on: 2024-07-11
Published on: 2024-07-11

HGVS expressions

NM_001754.5:c.671G>A
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)
NC_000021.9:g.34834544C>T
CM000683.2:g.34834544C>T
NC_000021.8:g.36206841C>T
CM000683.1:g.36206841C>T
NC_000021.7:g.35128711C>T
NG_011402.2:g.1155168G>A
ENST00000675419.1:c.671G>A
ENST00000300305.7:c.671G>A
ENST00000344691.8:c.590G>A
ENST00000358356.9:c.590G>A
ENST00000399237.6:c.635G>A
ENST00000399240.5:c.532+24930G>A
ENST00000437180.5:c.671G>A
ENST00000469087.1:n.207G>A
ENST00000482318.5:c.*261G>A
NM_001001890.2:c.590G>A
NM_001122607.1:c.590G>A
NM_001754.4:c.671G>A
NM_001001890.3:c.590G>A
NM_001122607.2:c.590G>A

Uncertain Significance

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

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1): c.671G>A (p.Arg224Gln) is a missense variant which does not meet any ACMG/AMP criteria. 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: None.
Not Met criteria codes
PVS1
This variant is not a null variant.
BP7
This variant is not a synonymous or intronic variant.
BP5
This rule is not applicable for MM-VCEP.
BP2
This variant has not been observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
BP3
This rule is not applicable for MM-VCEP.
BP4
This missense variant does not have a REVEL score < 0.50.
BP1
This rule is not applicable for MM-VCEP.
PS2
De novo data for this variant has not been reported in literature.
PS4
Proband data for this variant has not been reported in literature.
PS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
PS1
There has not yet been a missense change determined to be pathogenic at this amino acid residue.
PP1
Segregation data for this variant has not been reported in literature.
PP4
This rule is not applicable for MM-VCEP.
PP3
This missense variant does not have a REVEL score of ≥ 0.88.
PP2
This rule is not applicable for MM-VCEP.
PM6
De novo data for this variant has not been reported in literature.
PM2
This variant is present in at least one population database.
PM1
This variant does not affect any of the following amino acid residues, nor is it located within the RHD: R107, K110, A134, R162, R166, S167, R169, G170, K194, T196, D198, R201, R204 OR within residues 89-204.
PM5
There has not yet been a different missense change determined to be pathogenic at this amino acid residue.
PM3
This rule is not applicable for MM-VCEP.
PM4
This variant is not an in-frame deletion/insertion.
BA1
This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.
BS2
This rule is not applicable for MM-VCEP.
BS4
Segregation data for this variant has not been reported in literature.
BS3
In vitro or in vivo functional data has not been reported for this variant in the literature.
BS1
This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.
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