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.1044C>T (p.His348=)

Curation Version - 1.1
Curation History
JSON LD for Version 1.1

CA10014215

258182 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: e807406d-f407-4c9c-a49b-ed7cec76b60b

Approved on: 2025-01-15

Published on: 2025-01-15

HGVS expressions

NM_001754.5:c.1044C>T

NM_001754.5(RUNX1):c.1044C>T (p.His348=)

NC_000021.9:g.34792534G>A

CM000683.2:g.34792534G>A

NC_000021.8:g.36164831G>A

CM000683.1:g.36164831G>A

NC_000021.7:g.35086701G>A

NG_011402.2:g.1197178C>T

ENST00000675419.1:c.1044C>T

ENST00000300305.7:c.1044C>T

ENST00000344691.8:c.963C>T

ENST00000399240.5:c.771C>T

ENST00000437180.5:c.1044C>T

ENST00000482318.5:c.*634C>T

NM_001001890.2:c.963C>T

NM_001754.4:c.1044C>T

NM_001001890.3:c.963C>T

Uncertain Significance

BP4

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

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.1044C>T (p.His348=) is a synonymous variant. This synonymous variant has a SpliceAI score ≤ 0.20 (0.00) (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

BP4

This synonymous variant has a SpliceAI score ≤ 0.20 (0.00) (BP4).

PS1

This variant is not a missense 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.

BP5

This rule is not applicable for MM-VCEP

BP7

This variant does not have a phyloP score < 2.0.

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.

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

PVS1

This variant is not a null variant.

PM1

This variant is not a missense variant.

PM3

This rule is not applicable for MM-VCEP

PM5

This variant is not a missense 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.

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.

Curation History

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