The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_001754.5(RUNX1):c.*3444A>G

CA10653547

339807 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 8f7b847a-94ea-45e9-adb6-96640749870a
Approved on: 2022-07-08
Published on: 2022-07-08

HGVS expressions

NM_001754.5:c.*3444A>G
NM_001754.5(RUNX1):c.*3444A>G
NC_000021.9:g.34788691T>C
CM000683.2:g.34788691T>C
NC_000021.8:g.36160988T>C
CM000683.1:g.36160988T>C
NC_000021.7:g.35082858T>C
NG_011402.2:g.1201021A>G
ENST00000675419.1:c.*3444A>G
ENST00000300305.7:c.*3444A>G
ENST00000344691.8:c.*3444A>G
ENST00000437180.5:c.*3444A>G
NM_001001890.2:c.*3444A>G
NM_001754.4:c.*3444A>G
NM_001001890.3:c.*3444A>G
More

Likely Benign

Met criteria codes 2
BS1 BP2
Not Met criteria codes 24
PM1 PM3 PM5 PM4 PM6 PM2 PVS1 BA1 BS2 BS4 BS3 BP4 BP3 BP1 BP5 BP7 PS1 PS2 PS3 PS4 PP1 PP2 PP3 PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
NM_001754.5(RUNX1):c.*3444A>G is an intronic variant. MAF of 0.001 (0.1%, 18/15,276 alleles) in the Latino/Admixed American subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%) (BS1). This variant is reported in 4 homozygotes in gnomAD v2.1.1 (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: BS1 and BP2
Met criteria codes
BS1
MAF of 0.001 (0.1%, 18/15,276 alleles) in the Latino/Admixed American subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.00015 (0.015%) (BS1)
BP2
This variant is reported in 4 homozygotes in gnomAD v3.1.2
Not Met criteria codes
PM1
3' UTR variant
PM3
This rule is not applicable for MM-VCEP
PM5
3' UTR Variant
PM4
N/A
PM6
No case studies found
PM2
Meets BS1
PVS1
N/A
BA1
Meets BS1
BS2
This rule is not applicable for MM-VCEP
BS4
No case studies found
BS3
No evidence found
BP4
3' UTR Variant
BP3
This rule is not applicable for MM-VCEP
BP1
N/A
BP5
This rule is not applicable for MM-VCEP
BP7
N/A
PS1
3' UTR Variant
PS2
No case studies found
PS3
No evidence found
PS4
No case studies found
PP1
No case studies found
PP2
N/A
PP3
3' UTR Variant
PP4
This rule is not applicable for MM-VCEP
Curation History
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