Evidence Repository
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.*3582G>A

CA320248519

897095 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: f14f73c9-6307-4da8-ad3a-b26122d16ba7
Approved on: 2025-01-15
Published on: 2025-01-15

HGVS expressions

NM_001754.5:c.*3582G>A
NM_001754.5(RUNX1):c.*3582G>A
NC_000021.9:g.34788553C>T
CM000683.2:g.34788553C>T
NC_000021.8:g.36160850C>T
CM000683.1:g.36160850C>T
NC_000021.7:g.35082720C>T
NG_011402.2:g.1201159G>A
ENST00000675419.1:c.*3582G>A
ENST00000300305.7:c.*3582G>A
ENST00000344691.8:c.*3582G>A
ENST00000437180.5:c.*3582G>A
NM_001001890.2:c.*3582G>A
NM_001754.4:c.*3582G>A
NM_001001890.3:c.*3582G>A
More

Likely Benign

Met criteria codes 1
BS1
Not Met criteria codes 11
BP3 BP4 BP1 BP7 BP5 PP4 PP3 PP2 PM1 PM3 BS2

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.*3582G>A is a 3' UTR variant, which has an MAF of 0.01297 (0.1297%, 23/17732 alleles) in the Admixed American subpopulation of the gnomAD v4.1.0 cohort is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Met criteria codes
BS1
gnomAD v4.1.0 23/17732 alleles in Admixed American, MAF 0.1297% All: 38/232420 alleles, MAF 0.01635% MAF of 0.01297 (0.1297%, 23/17732 alleles) in the Admixed American subpopulation of the gnomAD v4.1.0 cohort is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1).
Not Met criteria codes
BP3
This rule is not applicable for MM-VCEP
BP4
UTR variant
BP1
This rule is not applicable for MM-VCEP
BP7
UTR variant
BP5
This rule is not applicable for MM-VCEP
PP4
This rule is not applicable for MM-VCEP
PP3
UTR variant
PP2
This rule is not applicable for MM-VCEP
PM1
This variant is not a missense variant.
PM3
This rule is not applicable for MM-VCEP
BS2
This rule is not applicable for MM-VCEP
Curation History
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