Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_001754.5(RUNX1):c.264G>C (p.Glu88Asp)

CA10014558

665375 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 077289cd-8949-4a3a-8d65-e7db2cc80b2e

Approved on: 2024-07-25

Published on: 2024-07-25

HGVS expressions

NM_001754.5:c.264G>C

NM_001754.5(RUNX1):c.264G>C (p.Glu88Asp)

NC_000021.9:g.34886930C>G

CM000683.2:g.34886930C>G

NC_000021.8:g.36259227C>G

CM000683.1:g.36259227C>G

NC_000021.7:g.35181097C>G

NG_011402.2:g.1102782G>C

ENST00000675419.1:c.264G>C

ENST00000300305.7:c.264G>C

ENST00000344691.8:c.183G>C

ENST00000358356.9:c.183G>C

ENST00000399237.6:c.228G>C

ENST00000399240.5:c.183G>C

ENST00000437180.5:c.264G>C

ENST00000455571.5:c.225G>C

ENST00000482318.5:c.59-6217G>C

NM_001001890.2:c.183G>C

NM_001122607.1:c.183G>C

NM_001754.4:c.264G>C

NM_001001890.3:c.183G>C

NM_001122607.2:c.183G>C

Uncertain Significance

PP1 PP4 PP3 PP2 PM5 PM1 PM3 PM4 BA1 PM6 PM2 BS2 BS4 BS3 BS1 PS4 PS2 PS1 PS3 BP2 BP3 BP4 BP1 BP7 BP5 PVS1

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

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.264G>C (p.Glu88Asp) 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.

PP1

No case study found

PP4

This rule is not applicable for MM-VCEP

PP3

This variant has a REVEL score of 0.84 (<0.88)

PP2

This rule is not applicable for MM-VCEP

PM5

No missense change at amino acid 88 has been determined to be pathogenic

PM1

This variant is located at amino acid 88 which is outside of the RHD

PM3

This rule is not applicable for MM-VCEP

PM4

Missense variant

BA1

This variant is present at a MAF of 0.00006225 ( 0.006%, 1/16064 alleles) in the African/African American population of gnomADv2.1.1

PM6

No case study found

PM2

This variant is present at a MAF of 0.00006225 ( 0.006%, 1/16064 alleles) in the African/African American population of gnomADv2.1.1

BS2

This rule is not applicable for MM-VCEP

BS4

No case study found

BS3

No studies found

BS1

This variant is present at a MAF of 0.00006225 ( 0.006%, 1/16064 alleles) in the African/African American population of gnomADv2.1.1

PS4

No case study found

PS2

No case study found

PS1

No missense change at amino acid 88 has been determined to be pathogenic

PS3

No studies found

BP2

No case study found

BP3

This rule is not applicable for MM-VCEP

BP4

This variant has a REVEL score of 0.84 (>0.5)

BP1

This rule is not applicable for MM-VCEP

BP7

Missense variant

BP5

This rule is not applicable for MM-VCEP

PVS1

This is a missense variant

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