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]

Variant: NM_001754.5(RUNX1):c.*3281G>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA1139666829

898727 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 95aa088d-f424-4e83-9fff-8f6c1b1c7fcc

Approved on: 2024-11-04

Published on: 2024-11-04

HGVS expressions

NM_001754.5:c.*3281G>T

NM_001754.5(RUNX1):c.*3281G>T

NC_000021.9:g.34788854C>A

CM000683.2:g.34788854C>A

NC_000021.8:g.36161151C>A

CM000683.1:g.36161151C>A

NC_000021.7:g.35083021C>A

NG_011402.2:g.1200858G>T

ENST00000675419.1:c.*3281G>T

ENST00000300305.7:c.*3281G>T

ENST00000344691.8:c.*3281G>T

ENST00000437180.5:c.*3281G>T

NM_001001890.2:c.*3281G>T

NM_001754.4:c.*3281G>T

NM_001001890.3:c.*3281G>T

Uncertain Significance

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

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.*3281G>T is a UTR variant which has not been featured in functional or case studies. Computational data has been used to evaluate this variant. It has a SpliceAI score of 0 and a PhyloP score of 0.68, however as a UTR variant neither BP4 and BP7 may be applied. In summary, this variant meets criteria to be classified as VUS. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: none

PS1

This variant is not a missense, synonymous, or frameshift variant.

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.

PP1

Segregation data for this variant has not been reported in literature.

PP2

This rule is not applicable for MM-VCEP.

PP3

This synonymous or intronic variant does not have a SpliceAI score ≥ 0.38.

PP4

This rule is not applicable for MM-VCEP.

PM1

This variant is not a missense variant.

PM3

This rule is not applicable for MM-VCEP.

PM5

This variant is not a missense, synonymous, or frameshift variant.

PM4

This variant is not an in-frame deletion/insertion.

PM6

De novo data for this variant has not been reported in literature.

PM2

This variant is present in at least one population database.

PVS1

This variant is not a null variant.

BA1

This variant does not have a MAF ≥ 0.0015 (0.15%) in any general continental population dataset.

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.

BP4

This is a UTR variant

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 is a UTR variant.

Curation History

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