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.*4003C>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10644611

339798 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 53ed64c7-8590-4a6a-957d-65cfda062a63

Approved on: 2024-09-16

Published on: 2024-09-16

HGVS expressions

NM_001754.5:c.*4003C>T

NM_001754.5(RUNX1):c.*4003C>T

NC_000021.9:g.34788132G>A

CM000683.2:g.34788132G>A

NC_000021.8:g.36160429G>A

CM000683.1:g.36160429G>A

NC_000021.7:g.35082299G>A

NG_011402.2:g.1201580C>T

ENST00000675419.1:c.*4003C>T

ENST00000300305.7:c.*4003C>T

ENST00000344691.8:c.*4003C>T

ENST00000437180.5:c.*4003C>T

NM_001001890.2:c.*4003C>T

NM_001754.4:c.*4003C>T

NM_001001890.3:c.*4003C>T

Uncertain Significance

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

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:c.*4003C>T is a 3' UTR variant located in exon 9. Although absent in gnomAD v2.1.1, this variant has been found in four individuals in gnomAD v3.1.2 (MAF: 0.00002629). Additionally, this variant has not been reported in any patients with RUNX1-related diseases. 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.

PVS1

This rule cannot be applied since this is a 3' UTR variant.

BA1

This rule cannot be applied since the variant is very rare in all population databases.

BS4

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study and we have no information about segregation.

BS3

To our knowledge, no in vitro or in vivo functional studies are available for this variant.

BS1

This rule cannot be applied since the variant is very rare in all population databases.

BP7

This variant is not a synonymous or intronic variant.

BP2

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study.

BP3

The MMVCEP does not evaluate this rule.

BP4

This rule cannot be applied since this is a 3' UTR variant.

BP1

The MMVCEP does not evaluate this rule.

PS2

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study.

PS4

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study.

PS3

To our knowledge, no in vitro or in vivo functional studies are available for this variant.

PS1

This rule cannot be applied since this is a 3' UTR variant.

PP1

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study and we have no information about its cosegregation with the disease.

PP4

The MMVCEP does not evaluate this rule.

PP3

This rule cannot be applied since this is a 3' UTR variant.

PP2

The MMVCEP does not evaluate this rule.

PM6

This rule cannot be applied since, to our knowledge, this variant has not been reported in any study.

PM2

This rule cannot be applied, as the variant, although absent in gnomAD v2.1.1, has been found in four individuals from gnomAD v3.1.2 (MAF: 0.00002629).

PM1

This rule cannot be applied since this is a 3' UTR variant.

PM5

This rule cannot be applied since this is a 3' UTR variant.

PM4

This rule cannot be applied since this is a 3' UTR variant.

Curation History

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