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]

Link to SEPIO compliant JSON-LD document

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

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

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

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

PS2

No case studies found

PS4

No case studies found

PS3

No evidence found

PS1

3' UTR Variant

BA1

Meets BS1

PP1

No case studies found

PP3

3' UTR Variant

PP2

N/A

PP4

This rule is not applicable for MM-VCEP

PM1

3' UTR variant

PM5

3' UTR Variant

PM4

N/A

PM3

This rule is not applicable for MM-VCEP

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

BP7

N/A

BP5

This rule is not applicable for MM-VCEP

BP4

3' UTR Variant

BP1

N/A

BP3

This rule is not applicable for MM-VCEP

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