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.*3619A>G

CA10652906

339802 (ClinVar)

Gene: RUNX1

Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a3156b5a-f778-4a4a-9a67-d1364c25bb90

Approved on: 2020-05-13

Published on: 2020-06-02

HGVS expressions

NM_001754.4:c.*3619A>G

NM_001754.4(RUNX1):c.*3619A>G

NC_000021.9:g.34788516T>C

CM000683.2:g.34788516T>C

NC_000021.8:g.36160813T>C

CM000683.1:g.36160813T>C

NC_000021.7:g.35082683T>C

NG_011402.2:g.1201196A>G

NM_001001890.2:c.*3619A>G

NM_001001890.3:c.*3619A>G

ENST00000300305.7:c.*3619A>G

ENST00000344691.8:c.*3619A>G

ENST00000437180.5:c.*3619A>G

Benign

BA1 BP2

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

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.*3619A>G variant in the 3' UTR has an MAF of 0.02813 (2.8%, 384/13650 alleles) in the Latino subpopulation of the gnomAD v3 cohort and is ≥ 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 11 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.

BA1

The c.*3619A>G variant is reported at the highest MAF in the Latino population in gnomAD v3, at a frequency of 0.02813 (384/13650 alleles), with 6 homozygotes.

BP2

A total of 11 homozygous individuals reported in gnomAD v3.

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

BP7

N/A

BP4

N/A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.