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.*3582G>A

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA320248519

897095 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: f14f73c9-6307-4da8-ad3a-b26122d16ba7

Approved on: 2022-06-23

Published on: 2022-06-23

HGVS expressions

NM_001754.5:c.*3582G>A

NM_001754.5(RUNX1):c.*3582G>A

NC_000021.9:g.34788553C>T

CM000683.2:g.34788553C>T

NC_000021.8:g.36160850C>T

CM000683.1:g.36160850C>T

NC_000021.7:g.35082720C>T

NG_011402.2:g.1201159G>A

ENST00000675419.1:c.*3582G>A

ENST00000300305.7:c.*3582G>A

ENST00000344691.8:c.*3582G>A

ENST00000437180.5:c.*3582G>A

NM_001001890.2:c.*3582G>A

NM_001754.4:c.*3582G>A

NM_001001890.3:c.*3582G>A

Uncertain Significance

The Expert Panel has overridden the computationally generated classification - "[unknown]"

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

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.*3582G>A is an intronic variant. 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.

BA1

MAF of 0.00006549 (0.0065%, 1/15270 alleles) in the European (non-Finnish) subpopulation of the gnomAD v2.1.1

PM1

3' UTR variant does not impact hotspots or AA89-205

PM5

3' UTR variant

PM3

This rule is not applicable for MM-VCEP

PM4

3' UTR variant does not impact hotspots or AA89-205

PM6

N/A

PM2

MAF of 0.00006549 (0.0065%, 1/15270 alleles) in the European (non-Finnish) subpopulation of the gnomAD v2.1.1

BS2

This rule is not applicable for MM-VCEP

PVS1

3' UTR variant

BS4

N/A

BS3

N/A

BS1

MAF of 0.00006549 (0.0065%, 1/15270 alleles) in the European (non-Finnish) subpopulation of the gnomAD v2.1.1

BP2

N/A

BP3

This rule is not applicable for MM-VCEP

BP4

Not applicable to 3'UTR variants according to v2 rules

BP1

This rule is not applicable for MM-VCEP

BP7

Not applicable to 3'UTR variants according to v2 rules

BP5

This rule is not applicable for MM-VCEP

PS2

N/A

PS4

Evidence not found

PS3

N/A

PS1

3' UTR variant

PP1

N/A

PP4

This rule is not applicable for MM-VCEP

PP3

Not applicable to 3'UTR variants according to v2 rules

PP2

This rule is not applicable for MM-VCEP

Curation History

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