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_001754.4(RUNX1):c.*3721A>T

CA10650410

339801 (ClinVar)

Gene: RUNX1 (HGNC:861)

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome (MONDO:0011071)

Inheritance Mode: Autosomal dominant inheritance

UUID: d6249ec6-8bee-41b0-825c-9d9d2d30ddac

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*3721A>T

NM_001754.4(RUNX1):c.*3721A>T

NC_000021.9:g.34788414T>A

CM000683.2:g.34788414T>A

NC_000021.8:g.36160711T>A

CM000683.1:g.36160711T>A

NC_000021.7:g.35082581T>A

NG_011402.2:g.1201298A>T

NM_001001890.2:c.*3721A>T

NM_001001890.3:c.*3721A>T

ENST00000300305.7:c.*3721A>T

ENST00000344691.8:c.*3721A>T

ENST00000437180.5:c.*3721A>T

Benign

BA1 BP2

PP3 PP1 PM5 PM4 PM1 PM2 PM6 PS1 PS3 PS4 PVS1 BP7 BP4 BS1 BS3 BS4

Evidence Links 0

Expert Panel

Myeloid Malignancy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Myeloid Malignancy VCEP

The c.*3721A>T variant in the 3' UTR has an MAF of 0.001757 (0.18%, 24/13660 alleles) in the Latino subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 8 Amish individuals in the gnomAD v3 population database (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: BA1, BP2.

BA1

The variant is reported at the highest MAF in the Latino population in gnomAD v3, at a frequency of 0.001757 (24/13660 alleles).

BP2

8 Amish homozygous individuals in gnomAD v3.

PP3

N/A

PP1

N/A

PM5

N/A

PM4

N/A

PM1

N/A

PM2

Variant meets BA1

PM6

N/A

PS1

N/A

PS3

N/A

PS4

Variant meets BA1

PVS1

N/A

BP7

N/A

BP4

N/A

BS1

Variant meets BA1

BS3

N/A

BS4

N/A

Curation History

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