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.*27C>A

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10014168

258180 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 210d2128-e3f8-4416-9c59-354182020a63

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*27C>A

NM_001754.4(RUNX1):c.*27C>A

NM_001001890.2:c.*27C>A

NM_001001890.3:c.*27C>A

ENST00000300305.7:c.*27C>A

ENST00000344691.8:c.*27C>A

ENST00000399240.5:c.*27C>A

ENST00000437180.5:c.*27C>A

ENST00000482318.5:c.*1060C>A

NC_000021.9:g.34792108G>T

CM000683.2:g.34792108G>T

NC_000021.8:g.36164405G>T

CM000683.1:g.36164405G>T

NC_000021.7:g.35086275G>T

NG_011402.2:g.1197604C>A

Benign

BP2 BA1

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

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.*27C>A variant in the 3' UTR has an MAF of 0.4444 (44%, 1352/3042 alleles) in the South Asian subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 301 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

157 and 301 homozygotes are reported in gnomAD v2.1.1 and v3 , respectively.

BA1

The c.*27C>A variant is reported at the highest MAF in the South Asian population in gnomAD v3, at a frequency of 0.4444 (1352/3042 alleles), with 301 homozygotes.

BS1

Variant meets BA1

BS4

N/A

BS3

N/A

BP4

N/A

BP7

N/A

PS4

Variant meets BA1

PS3

N/A

PS1

N/A

PVS1

N/A

PP1

N/A

PP3

N/A

PM4

N/A

PM1

N/A

PM5

N/A

PM2

Variant meets BA1

PM6

N/A

Curation History

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