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_001754.4(RUNX1):c.*3977G>A

CA10650402

339799 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: da0bcbca-a4b1-4e32-a2e0-701807535636

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*3977G>A

NM_001754.4(RUNX1):c.*3977G>A

NC_000021.9:g.34788158C>T

CM000683.2:g.34788158C>T

NC_000021.8:g.36160455C>T

CM000683.1:g.36160455C>T

NC_000021.7:g.35082325C>T

NG_011402.2:g.1201554G>A

NM_001001890.2:c.*3977G>A

NM_001001890.3:c.*3977G>A

ENST00000300305.7:c.*3977G>A

ENST00000344691.8:c.*3977G>A

ENST00000437180.5:c.*3977G>A

Benign

BA1

PS1 PS3 PS4 PVS1 PP3 PP1 PM5 PM4 PM1 PM2 PM6 BS1 BS3 BS4 BP7 BP4 BP2

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.*3977G>A variant in the 3' UTR has an MAF of 0.003831 (0.38%, 12/3132 alleles) in the East Asian subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). 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.

BA1

The variant is reported at the highest MAF in the East Asian population in gnomAD v3, at a frequency of 0.003831 (12/3132 alleles), with 0 homozygotes.

PS1

N/A

PS3

N/A

PS4

Variant meets BA1

PVS1

N/A

PP3

N/A

PP1

N/A

PM5

N/A

PM4

N/A

PM1

N/A

PM2

N/A

PM6

N/A

BS1

N/A

BS3

N/A

BS4

N/A

BP7

N/A

BP4

N/A

BP2

N/A

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