The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_001754.5(RUNX1):c.232A>T (p.Met78Leu)

CA10583885

239046 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 8991dcf9-e7fe-46a2-9e82-aef9d2f34910
Approved on: 2024-07-11
Published on: 2024-07-11

HGVS expressions

NM_001754.5:c.232A>T
NM_001754.5(RUNX1):c.232A>T (p.Met78Leu)
NC_000021.9:g.34886962T>A
CM000683.2:g.34886962T>A
NC_000021.8:g.36259259T>A
CM000683.1:g.36259259T>A
NC_000021.7:g.35181129T>A
NG_011402.2:g.1102750A>T
ENST00000675419.1:c.232A>T
ENST00000300305.7:c.232A>T
ENST00000344691.8:c.151A>T
ENST00000358356.9:c.151A>T
ENST00000399237.6:c.196A>T
ENST00000399240.5:c.151A>T
ENST00000437180.5:c.232A>T
ENST00000455571.5:c.193A>T
ENST00000482318.5:c.59-6249A>T
NM_001001890.2:c.151A>T
NM_001122607.1:c.151A>T
NM_001754.4:c.232A>T
NM_001001890.3:c.151A>T
NM_001122607.2:c.151A>T
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Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 25
PP1 PP2 PP3 PP4 PM6 PM1 PM3 PM5 PM4 PS1 PS2 PS3 PS4 BA1 PVS1 BP4 BP3 BP1 BP2 BP5 BP7 BS2 BS1 BS4 BS3

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

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Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.232A>T (p.Met78Leu) is a missense variant which is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). 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.
Met criteria codes
PM2_Supporting
This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting).
Not Met criteria codes
PP1
Segregation data for this variant has not been reported in literature.
PP2
This rule is not applicable for MM-VCEP.
PP3
This missense variant does not have a REVEL score of ≥ 0.88.
PP4
This rule is not applicable for MM-VCEP.
PM6
De novo data for this variant has not been reported in literature.
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.
PM3
This rule is not applicable for MM-VCEP.
PM5
There has not yet been a different missense change determined to be pathogenic at this amino acid residue.
PM4
This variant is not an in-frame deletion/insertion.
PS1
There has not yet been a missense change determined to be pathogenic at this amino acid residue.
PS2
De novo 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.
PS4
Proband data for this variant has not been reported in literature.
BA1
This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.
PVS1
This variant is not a null variant.
BP4
This missense variant does not have a REVEL score < 0.50.
BP3
This rule is not applicable for MM-VCEP.
BP1
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.
BP5
This rule is not applicable for MM-VCEP.
BP7
This variant is not a synonymous or intronic variant.
BS2
This rule is not applicable for MM-VCEP.
BS1
This variant does not have a MAF between 0.00015 (0.015%) and 0.0015 (0.15%) in any general continental dataset.
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.
Curation History
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