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.*3557C>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA320248552

897570 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 74db2f83-2875-4293-a23e-02ca1281796d

Approved on: 2024-11-13

Published on: 2024-11-13

HGVS expressions

NM_001754.5:c.*3557C>T

NM_001754.5(RUNX1):c.*3557C>T

NC_000021.9:g.34788578G>A

CM000683.2:g.34788578G>A

NC_000021.8:g.36160875G>A

CM000683.1:g.36160875G>A

NC_000021.7:g.35082745G>A

NG_011402.2:g.1201134C>T

ENST00000675419.1:c.*3557C>T

ENST00000300305.7:c.*3557C>T

ENST00000344691.8:c.*3557C>T

ENST00000437180.5:c.*3557C>T

NM_001001890.2:c.*3557C>T

NM_001754.4:c.*3557C>T

NM_001001890.3:c.*3557C>T

Uncertain Significance

BS4 BS3 BS1 BP2 BP4 BP7 PS2 PS4 PS3 BA1 PVS1 PP1 PP3 PM1 PM4 PM6 PM2

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.*3557C>T is a 3' UTR change which does not meey 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.

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.

BP2

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

BP4

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

BP7

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

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.

BA1

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

PVS1

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.

PP3

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

PM1

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.

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 because the variant's MAF is extremely low, at 0.00003192 in gnomAD v2 and 0.000006584 in gnomAD v3.

Curation History

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