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]
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  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_001754.5(RUNX1):c.333C>G (p.Thr111=)

CA10014549

1104235 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: c5ac4a28-3b90-4f47-882f-777c82d356b0

HGVS expressions

NM_001754.5:c.333C>G
NM_001754.5(RUNX1):c.333C>G (p.Thr111=)
NC_000021.9:g.34886861G>C
CM000683.2:g.34886861G>C
NC_000021.8:g.36259158G>C
CM000683.1:g.36259158G>C
NC_000021.7:g.35181028G>C
NG_011402.2:g.1102851C>G
ENST00000675419.1:c.333C>G
ENST00000300305.7:c.333C>G
ENST00000344691.8:c.252C>G
ENST00000358356.9:c.252C>G
ENST00000399237.6:c.297C>G
ENST00000399240.5:c.252C>G
ENST00000437180.5:c.333C>G
ENST00000455571.5:c.294C>G
ENST00000482318.5:c.59-6148C>G
NM_001001890.2:c.252C>G
NM_001122607.1:c.252C>G
NM_001754.4:c.333C>G
NM_001001890.3:c.252C>G
NM_001122607.2:c.252C>G

Likely Benign

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

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
Synonymous variant (no REVEL score applicable) with SpliceAI score ≤ 0.20 (0.00) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 1.160 (< 2.0)) (BP7). 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: BP4, BP7.
Met criteria codes
BP7
Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 1.160 (< 2.0)) (BP7)
BP4
Synonymous variant (no REVEL score applicable) with SpliceAI score ≤0.20 (0.00) (BP4)
Not Met criteria codes
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
This rule is not applicable for MM-VCEP
BP3
This rule is not applicable for MM-VCEP
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
This rule is not applicable for MM-VCEP
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
This rule is not applicable for MM-VCEP
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
This rule is not applicable for MM-VCEP
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
This rule is not applicable for MM-VCEP
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
This rule is not applicable for MM-VCEP
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2024-06-24
Published on: 2024-06-24
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