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.*4238G>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10652904

339793 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 5a1a3357-69e2-4980-bed5-5aa7c277d6fe

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*4238G>T

NM_001754.4(RUNX1):c.*4238G>T

NC_000021.9:g.34787897C>A

CM000683.2:g.34787897C>A

NC_000021.8:g.36160194C>A

CM000683.1:g.36160194C>A

NC_000021.7:g.35082064C>A

NG_011402.2:g.1201815G>T

NM_001001890.2:c.*4238G>T

NM_001001890.3:c.*4238G>T

ENST00000300305.7:c.*4238G>T

ENST00000344691.8:c.*4238G>T

ENST00000437180.5:c.*4238G>T

Benign

BA1 BP2

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

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.*4238G>T variant in the 3' UTR has an MAF of 0.004815 (0.48%, 311/64584 alleles) in the non-Finish European subpopulation of the gnomAD v3 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.*4238G>T variant is reported at the highest MAF in the non-Finish European population in gnomAD v3, at a frequency of 0.004815 (311/64584 alleles), with 0 homozygotes. Note, the frequency of this variant in the Ashkenazi Jewish population is reported at 0.01835.

BP2

1 homozygous individual reported in NFE population in gnomAD v2.1.1

PS1

N/A

PS3

N/A

PS4

Variant meets BA1

PP3

N/A

PP1

N/A

PM5

N/A

PM4

N/A

PM1

N/A

PM2

Variant meets BA1

PM6

N/A

PVS1

N/A

BS1

Variant meets BA1

BS3

N/A

BS4

N/A

BP4

N/A

BP7

N/A

Curation History

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