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.*4250C>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10644601

339792 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 4586f0b8-a873-4ed9-9f03-7d1acc138c75

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*4250C>T

NM_001754.4(RUNX1):c.*4250C>T

NM_001001890.2:c.*4250C>T

NM_001001890.3:c.*4250C>T

ENST00000300305.7:c.*4250C>T

ENST00000344691.8:c.*4250C>T

ENST00000437180.5:c.*4250C>T

NC_000021.9:g.34787885G>A

CM000683.2:g.34787885G>A

NC_000021.8:g.36160182G>A

CM000683.1:g.36160182G>A

NC_000021.7:g.35082052G>A

NG_011402.2:g.1201827C>T

Benign

BA1 BP2

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

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.*4250C>T variant in the 3' UTR has an MAF of 0.002009 (0.2%, 31/15430 alleles) in the non-Finnish European subpopulation of the gnomAD v2.1.1 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 1 individual in the gnomAD v2.1.1 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 c.*4250C>T variant is reported at the highest MAF in the non-Finnish European population in gnomAD v2.1.1, at a frequency of 0.002009 (31/15430 alleles), with 1 homozygotes. Note, the frequency of this variant in the Finnish European population is reported at 0.00403.

BP2

1 homozygous individual reported in gnomAD v2.1.1 and v3 each

PM2

Variant meets BA1

PM6

N/A

PM4

N/A

PM1

N/A

PM5

N/A

PVS1

N/A

BS1

Variant meets BA1

BS4

N/A

BS3

N/A

BP7

N/A

BP4

N/A

PS4

Variant meets BA1

PS3

N/A

PS1

N/A

PP1

N/A

PP3

N/A

Curation History

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