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.*3444A>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10653547

339807 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 8f7b847a-94ea-45e9-adb6-96640749870a

Approved on: 2022-07-08

Published on: 2022-07-08

HGVS expressions

NM_001754.5:c.*3444A>G

NM_001754.5(RUNX1):c.*3444A>G

NC_000021.9:g.34788691T>C

CM000683.2:g.34788691T>C

NC_000021.8:g.36160988T>C

CM000683.1:g.36160988T>C

NC_000021.7:g.35082858T>C

NG_011402.2:g.1201021A>G

ENST00000675419.1:c.*3444A>G

ENST00000300305.7:c.*3444A>G

ENST00000344691.8:c.*3444A>G

ENST00000437180.5:c.*3444A>G

NM_001001890.2:c.*3444A>G

NM_001754.4:c.*3444A>G

NM_001001890.3:c.*3444A>G

Likely Benign

BS1 BP2

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

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.*3444A>G is an intronic variant. MAF of 0.001 (0.1%, 18/15,276 alleles) in the Latino/Admixed American subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%) (BS1). This variant is reported in 4 homozygotes in gnomAD v2.1.1 (BP2). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1 and BP2

BS1

MAF of 0.001 (0.1%, 18/15,276 alleles) in the Latino/Admixed American subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%) (BS1)

BP2

This variant is reported in 4 homozygotes in gnomAD v3.1.2

PM1

3' UTR variant

PM3

This rule is not applicable for MM-VCEP

PM5

3' UTR Variant

PM4

N/A

PM6

No case studies found

PM2

Meets BS1

PVS1

N/A

BS4

No case studies found

BS3

No evidence found

BS2

This rule is not applicable for MM-VCEP

BP5

This rule is not applicable for MM-VCEP

BP7

N/A

BP4

3' UTR Variant

BP3

This rule is not applicable for MM-VCEP

BP1

N/A

PS1

3' UTR Variant

PS2

No case studies found

PS3

No evidence found

PS4

No case studies found

BA1

Meets BS1

PP1

No case studies found

PP2

N/A

PP3

3' UTR Variant

PP4

This rule is not applicable for MM-VCEP

Curation History

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