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]
Link to SEPIO compliant JSON-LD document
  • See Evidence submitted by expert panel for details.

Variant: NM_001754.4(RUNX1):c.331A>G (p.Thr111Ala)

CA410203415

532671 (ClinVar)

Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 1823619f-a990-4590-a95b-0a7edb3671c1

HGVS expressions

NM_001754.4:c.331A>G
NM_001754.4(RUNX1):c.331A>G (p.Thr111Ala)
NC_000021.9:g.34886863T>C
CM000683.2:g.34886863T>C
NC_000021.8:g.36259160T>C
CM000683.1:g.36259160T>C
NC_000021.7:g.35181030T>C
NG_011402.2:g.1102849A>G
NM_001001890.2:c.250A>G
NM_001122607.1:c.250A>G
ENST00000300305.7:c.331A>G
ENST00000344691.8:c.250A>G
ENST00000358356.9:c.250A>G
ENST00000399237.6:c.295A>G
ENST00000399240.5:c.250A>G
ENST00000437180.5:c.331A>G
ENST00000455571.5:c.292A>G
ENST00000482318.5:c.59-6150A>G

Uncertain Significance

Met criteria codes 3
PM1_Supporting PP3 PM2
Not Met criteria codes 15
BA1 PVS1 BS3 BS1 BS4 BP7 BP4 BP2 PS3 PS1 PS4 PP1 PM4 PM5 PM6

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.331A>G (p.Thr111Ala) variant affects one of the residues (AA 105-204) within the RHD (PM1_Supporting). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). This missense variant has a REVEL score >0.75 (0.939) (PP3). 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: PM2, PP3, PM1_supporting.
Met criteria codes
PM1_Supporting
Residue in RUNT domain (105-204aa).
PP3
REVEL: 0.939 >0.75
PM2
The variant is absent from all population databases.
Not Met criteria codes
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
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
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
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
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
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
PM5
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
Approved on: 2019-07-26
Published on: 2019-08-02
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.
¤ Powered by BCM's Genboree.