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.182C>G (p.Pro61Arg)

CA410203987

1951250 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 3601d04a-af75-4f56-9ee2-bac3a7f1a2ff

Approved on: 2024-07-17

Published on: 2024-07-17

HGVS expressions

NM_001754.5:c.182C>G

NM_001754.5(RUNX1):c.182C>G (p.Pro61Arg)

NC_000021.9:g.34887012G>C

CM000683.2:g.34887012G>C

NC_000021.8:g.36259309G>C

CM000683.1:g.36259309G>C

NC_000021.7:g.35181179G>C

NG_011402.2:g.1102700C>G

ENST00000675419.1:c.182C>G

ENST00000300305.7:c.182C>G

ENST00000344691.8:c.101C>G

ENST00000358356.9:c.101C>G

ENST00000399237.6:c.146C>G

ENST00000399240.5:c.101C>G

ENST00000437180.5:c.182C>G

ENST00000455571.5:c.143C>G

ENST00000482318.5:c.59-6299C>G

NM_001001890.2:c.101C>G

NM_001122607.1:c.101C>G

NM_001754.4:c.182C>G

NM_001001890.3:c.101C>G

NM_001122607.2:c.101C>G

Uncertain Significance

BP4 PM2_Supporting

PVS1 BP7 BP5 BP2 BP3 BP1 PS2 PS4 PS3 PS1 PP1 PP4 PP3 PP2 PM6 PM1 PM5 PM3 PM4 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.182C>G (p.Pro61Arg) is a missense variant which is absent from gnomAD v2.1.1 and v3.1.2 (PM2_supporting). This variant has a REVEL score < 0.50 (0.316), and a SpliceAI score ≤ 0.20 (0.0) (BP4). 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: BP4, PM2_supporting.

BP4

REVEL= 0.316 which is below the threshold for pathogenicity and SpliceAI=0 which indicates that there is a very low chance that the variant impacts splicing.

PM2_Supporting

Absent from gnomAD.

PVS1

Variant is missense

BP7

Variant is missense.

BP5

This rule is not applicable for MM-VCEP

BP2

Variant is not found in published studies.

BP3

This rule is not applicable for MM-VCEP

BP1

This rule is not applicable for MM-VCEP

PS2

Variant is not found in published studies.

PS4

Variant is not found in published studies.

PS3

Variant is not found in published studies.

PS1

Not reported.

PP1

Variant is not found in published studies.

PP4

This rule is not applicable for MM-VCEP

PP3

REVEL= 0.316 and SpliceAI=0

PP2

This rule is not applicable for MM-VCEP

PM6

Variant is not found in published studies.

PM1

Variant is not in a established functional domain.

PM5

Not reported.

PM3

This rule is not applicable for MM-VCEP

PM4

Variant is a missense variant.

BA1

Absent from gnomAD.

BS2

This rule is not applicable for MM-VCEP

BS4

Variant is not found in published studies.

BS3

Variant is not found in published studies.

BS1

Absent from gnomAD.

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