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.*2285A>C

CA10652918

339835 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 6220b404-e4a7-4f1e-b35d-e8e5f25fc6bd

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*2285A>C

NM_001754.4(RUNX1):c.*2285A>C

NM_001001890.2:c.*2285A>C

NM_001001890.3:c.*2285A>C

ENST00000300305.7:c.*2285A>C

ENST00000344691.8:c.*2285A>C

ENST00000437180.5:c.*2285A>C

NC_000021.9:g.34789850T>G

CM000683.2:g.34789850T>G

NC_000021.8:g.36162147T>G

CM000683.1:g.36162147T>G

NC_000021.7:g.35084017T>G

NG_011402.2:g.1199862A>C

Benign

BP2 BA1

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

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 NM_001754.4:c.*2285A>C variant in the 3' UTR has an MAF of 0.1077 (10.8%; 937/8698 alleles) in the African subpopulation of the gnomAD v2.1.1 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 212 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.

BP2

33 and 212 homozygotes are reported in gnomAD v2.1.1 and v3 , respectively.

BA1

The c.*2285A>C variant is reported at the highest MAF in the African population in gnomAD v2.1.1, at a frequency of 0.1077 (937/8698 alleles), with 33 homozygotes.

BP7

N/A

PVS1

N/A

BP4

N/A

PS4

Variant meets BA1

PS3

N/A

PS1

N/A

PP3

N/A

PP1

N/A

PM2

Variant meets BA1

PM6

N/A

PM4

N/A

PM1

N/A

PM5

N/A

BS1

Variant meets BA1

BS4

N/A

BS3

N/A

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