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]
  • See Evidence submitted by expert panel for details.

Variant: NM_001754.4(RUNX1):c.97+4T>G

CA10014626

339878 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: bdea36eb-db13-4ea7-9d70-efa5d6e16c01
Approved on: 2019-07-26
Published on: 2019-08-02

HGVS expressions

NM_001754.4:c.97+4T>G
NM_001754.4(RUNX1):c.97+4T>G
NC_000021.9:g.34892921A>C
CM000683.2:g.34892921A>C
NC_000021.8:g.36265218A>C
CM000683.1:g.36265218A>C
NC_000021.7:g.35187088A>C
NG_011402.2:g.1096791T>G
ENST00000300305.7:c.97+4T>G
ENST00000437180.5:c.97+4T>G
ENST00000455571.5:c.59-5825T>G
ENST00000475045.6:c.97+4T>G
ENST00000482318.5:c.59-12208T>G
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Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 17
BS3 BS4 BS1 BP2 BP7 PS1 PS3 PS4 BA1 PP3 PP1 PM5 PM4 PM1 PM6 PM2 PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Myeloid Malignancy VCEP
The NM_001754.4:c.97+4T>G variant is an intronic variant predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). The gnomAD Allele Frequency of this variant is 0.00003. In summary, the clinical significance of this variant is uncertain (VUS). ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4.
Met criteria codes
BP4
Intronic variant for which SSF and MES predict either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% AND no putative cryptic splice sites are created.
Not Met criteria codes
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No evidence
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
Not observed
BP7
An intronic variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved. But it is within +7bp of a splice site. phyloP100way 0.714559>0.1.
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
PS4
No evidence
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No evidence
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
PM6
No evidence
PM2
gnomAD Allele Frequency 0.00003
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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