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.508+275T>G

CA320637507

1178133 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 52141e43-172e-48da-a1b5-cf96261bba2a

Approved on: 2023-11-13

Published on: 2023-11-13

HGVS expressions

NM_001754.5:c.508+275T>G

NM_001754.5(RUNX1):c.508+275T>G

NC_000021.9:g.34880282A>C

CM000683.2:g.34880282A>C

NC_000021.8:g.36252579A>C

CM000683.1:g.36252579A>C

NC_000021.7:g.35174449A>C

NG_011402.2:g.1109430T>G

ENST00000675419.1:c.508+275T>G

ENST00000300305.7:c.508+275T>G

ENST00000344691.8:c.427+275T>G

ENST00000358356.9:c.427+275T>G

ENST00000399237.6:c.472+275T>G

ENST00000399240.5:c.427+275T>G

ENST00000437180.5:c.508+275T>G

ENST00000482318.5:c.*98+275T>G

NM_001001890.2:c.427+275T>G

NM_001122607.1:c.427+275T>G

NM_001754.4:c.508+275T>G

NM_001001890.3:c.427+275T>G

NM_001122607.2:c.427+275T>G

Benign

BA1 BP2

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

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

NM_001754.5(RUNX1):c.508+275T>G is an intronic variant with no predicted splice effect. MAF of 0.03675 (3.675%, 320/8708 alleles) in the African/African American subpopulation of the gnomADv2.1.1 cohort is ≥ 0.0015 (0.15%) (BA1). Variant observed in homozygous state (2) in gnomAD v2.1.1 (BP2). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2

BA1

MAF of 0.03675 (3.675%, 320/8708 alleles) in the African/African American subpopulation of the gnomADv2.1.1 cohort is ≥ 0.0015 (0.15%) (BA1).

BP2

two homozygotes in gnomADv2.1.1

PS2

No case study found

PS1

intronic variant

PS3

No studies found

PS4

BA1 met

PP4

This rule is not applicable for MM-VCEP

PP3

this is an intronic variant with no splice effect predicted

PP2

This rule is not applicable for MM-VCEP

PP1

No case study

PM6

No case study found

PM2

BA1 Met

PM5

intronic variant

PM1

intronic variant

PM4

intronic variant

PM3

This rule is not applicable for MM-VCEP

PVS1

Intronic variant with no predicted splice effect

BS2

This rule is not applicable for MM-VCEP

BS3

No studies found

BS4

No case study

BS1

BA1 Met

BP3

This rule is not applicable for MM-VCEP

BP4

this is an intronic variant with no splice effect predicted

BP1

This rule is not applicable for MM-VCEP

BP7

intronic variant

BP5

This rule is not applicable for MM-VCEP

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