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.11A>G (p.Asp4Gly)

CA10014734

239041 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: efe4c1ee-906f-4fc9-b602-3ac7331b29ad

Approved on: 2024-08-16

Published on: 2024-08-16

HGVS expressions

NM_001754.5:c.11A>G

NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)

NC_000021.9:g.35048889T>C

CM000683.2:g.35048889T>C

NC_000021.8:g.36421186T>C

CM000683.1:g.36421186T>C

NC_000021.7:g.35343056T>C

NG_011402.2:g.940823A>G

ENST00000675419.1:c.11A>G

ENST00000300305.7:c.11A>G

ENST00000416754.1:c.11A>G

ENST00000437180.5:c.11A>G

ENST00000455571.5:c.11A>G

ENST00000475045.6:c.11A>G

ENST00000482318.5:c.11A>G

NM_001754.4:c.11A>G

Uncertain Significance

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

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.11A>G (p.Asp4Gly) 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.

BP4

REVEL 0.334

BP1

This rule is not applicable for MM-VCEP

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

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

PS2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS1

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

PP3

REVEL 0.334 SpliceAI <0.2

PP2

This rule is not applicable for MM-VCEP

PP4

This rule is not applicable for MM-VCEP

PM1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

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

The variant is present in 7/242628 individuals in gnomad 4.0.

PVS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BA1

The variant is present in 7/242628 individuals in gnomad 4.0.

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

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

The variant is present in 7/242628 individuals in gnomad 4.0.

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