About RUNX1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
RUNX1 c.569G>A, p.(Gly190Glu)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is ClinGen RUNX1 VCEP v3.1.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 2
Benign evidence criteria: 0
Pathogenic criteria applied · 2
PM1Supporting
PM1 · supporting
This missense variant affects RUNX1 codon 190, which lies within the Runt homology domain residue range 89-204 used by the RUNX1 VCEP for PM1_Supporting. Codon 190 is not one of the 13 residues specified for PM1_Strong, so PM1 is met at supporting strength.
PM2Supporting
PM2 · supporting
This variant is absent from gnomAD v4.1 and is present only once in gnomAD v2.1 (1/250682 alleles; AF 3.98912e-06, 0.00040%), which is below the RUNX1 VCEP PM2_Supporting threshold of 0.00005, supporting rarity in the general population.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015 v3.1.0 point-based framework: PM1 supporting (+1) + PM2 supporting (+1) = 2 points, which maps to VUS.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
Not recorded
gnomAD v4.1 allele counts were not recorded for this variant.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98912e-06; MAF= 0.00040%, 1/250682 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.83174e-06; MAF= 0.00088%, 1/113228 alleles, homozygotes = 0).
SpliceAI score
0.010 maximum delta
Recorded SpliceAI maximum delta score: 0.010. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
1 reported laboratory submissions
1 Uncertain significance.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. RUNX1, a transcription factor involved in hematopoietic differentiation, is altered by mutation or chromosomal rearrangement in various hematologic ma
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen RUNX1 VCEP v3.1.0, with the data and sources behind each one.
28 criteria with recorded statuses: 2 met · 6 not met · 8 not assessed · 12 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The RUNX1 c.569G>A (p.Gly190Glu) variant has been reported in ClinVar, including an expert-panel assertion of uncertain significance.
This variant is absent from gnomAD v4.1 and is present only once in gnomAD v2.1 (1/250682 alleles; AF 3.98912e-06, 0.00040%), which supports rarity under the RUNX1 PM2_Supporting threshold of 0.00005.
The altered residue lies within the RUNX1 Runt homology domain residue range 89-204, supporting PM1 at supporting strength, but it is not one of the codons specified for PM1_Strong.
Computational evidence is mixed but does not meet RUNX1 VCEP thresholds for either PP3 or BP4: REVEL is 0.666, BayesDel is 0.313044, and SpliceAI predicts no significant splice effect with a maximum delta score of 0.01.
No criteria match.
Met · 2
PM1 SupportingThis missense variant affects RUNX1 codon 190, which lies within the Runt homology domain residue range 89-204 used by the RUNX1 VCEP for PM1_Supporting. Codon 190 is not one of the 13 residues specified for PM1_Strong, so PM1 is met at supporting strength. Details ▾Hide ▴
Rule
PM1_Supporting for residues 89-204 in the RUNX1 Runt homology domain
Evidence considered
- RUNX1 VCEP applies PM1_Supporting to missense variants affecting residues 89-204 within the Runt homology domain.
- RUNX1 VCEP reserves PM1_Strong for 13 specified residues
- codon 190 is not on that list.
- The variant protein consequence is p.(Gly190Glu).
Sources
PM2 SupportingThis variant is absent from gnomAD v4.1 and is present only once in gnomAD v2.1 (1/250682 alleles; AF 3.98912e-06, 0.00040%), which is below the RUNX1 VCEP PM2_Supporting threshold of 0.00005, supporting rarity in the general population. Details ▾Hide ▴
Rule
PM2_Supporting
Evidence considered
- RUNX1 VCEP PM2_Supporting threshold is MAF <= 0.00005 with adequate population data.
- gnomAD v4.1: absent.
- gnomAD v2.1: 1/250682 alleles
- AF 3.98912e-06.
Sources
Not met · 6 · evaluated, threshold not reached
PVS1 This missense variant does not fall into the RUNX1 loss-of-function categories used for PVS1, and SpliceAI predicts no significant splice effect (max delta score 0.01), so available evidence does not support a null-variant mechanism for this allele. Details ▾Hide ▴
Rule
RUNX1 VCEP PVS1 decision tree; generic scaffold not triggered for this missense change
Evidence considered
- RUNX1 VCEP includes PVS1 guidance but this variant is not a nonsense
- frameshift
- or canonical splice-site change.
- Generic PVS1 scaffold states this variant does not fall into default null-variant buckets.
- SpliceAI max delta score is 0.01.
Sources
PS1 No evidence was identified that this amino acid change is the same protein consequence as a previously established pathogenic or likely pathogenic RUNX1 variant from a different nucleotide change. Details ▾Hide ▴
Rule
PS1/PS1_Moderate require the same amino acid change as an established P or LP variant
Evidence considered
- RUNX1 VCEP allows PS1 for the same amino acid change as an established pathogenic or likely pathogenic variant.
- ClinVar shows this exact variant as VUS
- not as an established pathogenic comparator.
Still missing
- Direct confirmation of any alternate nucleotide change producing the same amino acid substitution would require additional case-level review.
Sources
PP3 Computational evidence does not meet the RUNX1 VCEP PP3 threshold. REVEL is 0.666, below the PP3 cutoff of 0.88, and SpliceAI is 0.01, below the splice threshold of 0.38. BayesDel is 0.313044, but RUNX1 PP3 is governed by the VCEP REVEL and SpliceAI thresholds. Details ▾Hide ▴
Rule
RUNX1 VCEP PP3 threshold
Evidence considered
- RUNX1 VCEP PP3 for missense variants requires REVEL >= 0.88 or SpliceAI >= 0.38.
- REVEL score: 0.666.
- SpliceAI max delta score: 0.01.
- BayesDel score: 0.313044.
Sources
BA1 Population frequency does not meet the RUNX1 BA1 threshold. The variant is absent from gnomAD v4.1 and is seen once in gnomAD v2.1, far below the BA1 threshold of 0.0015 (0.15%). Details ▾Hide ▴
Rule
RUNX1 VCEP BA1 threshold
Evidence considered
- RUNX1 VCEP BA1 requires MAF >= 0.0015 in a general continental population with sufficient alleles.
- gnomAD v4.1: absent.
- gnomAD v2.1: AF 3.98912e-06.
Sources
BS1 Population frequency does not meet the RUNX1 BS1 threshold. The variant is absent from gnomAD v4.1 and the overall gnomAD v2.1 frequency is 3.98912e-06, which is below the BS1 range lower bound of 0.00015 (0.015%). Details ▾Hide ▴
Rule
RUNX1 VCEP BS1 threshold
Evidence considered
- RUNX1 VCEP BS1 requires MAF between 0.00015 and 0.0015 with sufficient alleles.
- gnomAD v4.1: absent.
- gnomAD v2.1 overall AF: 3.98912e-06.
Sources
BP4 Computational evidence does not meet the RUNX1 VCEP BP4 threshold. Although SpliceAI is low at 0.01, REVEL is 0.666, which is not below the BP4 missense threshold of 0.50. BayesDel is available at 0.313044 but does not override the RUNX1 VCEP REVEL and SpliceAI rule. Details ▾Hide ▴
Rule
RUNX1 VCEP BP4 threshold
Evidence considered
- RUNX1 VCEP BP4 for missense variants requires REVEL < 0.50 and SpliceAI <= 0.20.
- REVEL score: 0.666.
- SpliceAI max delta score: 0.01.
- BayesDel score: 0.313044.
Sources
Not assessed · 8 · no assessment recorded
PS2 No proven de novo occurrence with confirmed maternity and paternity was identified for this variant, so PS2 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
PS2_Supporting requires 1 proven de novo occurrence; PS2_Moderate requires 2
Evidence considered
- RUNX1 VCEP requires 1 proven de novo occurrence for PS2_Supporting or 2 for PS2_Moderate.
- Exploratory review did not identify confirmed de novo evidence.
Still missing
- Original case reports or submitter data documenting confirmed de novo occurrence were not identified.
Sources
PS3 No variant-specific functional study demonstrating abnormal RUNX1 transactivation or corroborating abnormal secondary assay evidence was identified, so PS3 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP PS3 framework
Evidence considered
- RUNX1 VCEP requires abnormal transactivation and/or secondary assay evidence for PS3.
- OncoKB did not identify variant-specific reviewed functional evidence.
- Exploratory review did not identify usable exact-variant functional evidence.
Still missing
- Published transactivation or secondary functional assay data for this exact variant were not identified.
Sources
PS4 No confirmed count of unrelated probands meeting RUNX1 phenotype criteria was identified for this variant, so PS4 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP PS4 framework
Evidence considered
- RUNX1 VCEP requires 1 proband for PS4_Supporting
- 2-3 for PS4_Moderate
- and 4 or more for PS4.
- ClinVar shows an expert-panel VUS assertion but does not provide proband-count evidence here.
- Exploratory review did not identify a usable affected-proband count.
Still missing
- Primary case reports or curated records establishing the number of unrelated affected probands were not identified.
Sources
PM6 No assumed de novo occurrences without full parentage confirmation were identified for this variant, so PM6 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP PM6 framework
Evidence considered
- RUNX1 VCEP requires 2-3 assumed de novo occurrences for PM6_Supporting or 4 or more for PM6.
- Exploratory review did not identify usable assumed de novo evidence.
Still missing
- Original case reports or submitter narratives describing assumed de novo occurrence were not identified.
Sources
PP1 No segregation data were identified for this variant, so PP1 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP PP1 framework
Evidence considered
- RUNX1 VCEP requires 3-4 informative meioses for PP1
- 5-6 for PP1_Moderate
- and 7 or more for PP1_Strong.
- Exploratory review did not identify a usable segregation report.
Still missing
- Published pedigree data or curated family records with informative meioses were not identified.
Sources
BS3 No variant-specific functional study demonstrating normal RUNX1 function was identified, so BS3 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP BS3 framework
Evidence considered
- RUNX1 VCEP requires normal transactivation
- with or without secondary normal-function evidence depending on strength.
- OncoKB did not identify variant-specific reviewed functional evidence.
- Exploratory review did not identify exact-variant benign functional evidence.
Still missing
- Published normal transactivation or other validated normal-function assay data for this exact variant were not identified.
Sources
BS4 No non-segregation data were identified for this variant, so BS4 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RUNX1 VCEP BS4 framework
Evidence considered
- RUNX1 VCEP applies BS4 when a variant shows non-segregation in 2 or more informative meioses.
- Exploratory review did not identify usable non-segregation evidence.
Still missing
- Published pedigree data showing informative non-segregation were not identified.
Sources
BP2 No data were identified showing this variant in trans with a pathogenic variant or in cis with a pathogenic variant, so BP2 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
BP2 per RUNX1 VCEP/ACMG framework
Evidence considered
- RUNX1 VCEP allows BP2 per ACMG/AMP when appropriate phase evidence exists.
Still missing
- Phase information with another pathogenic variant was not identified.
Sources
Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴
PM3 VCEPPM3 is not applicable in the RUNX1 VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks PM3 as not applicable.
Sources
PM4 N/AThis is a missense substitution, not an in-frame insertion/deletion or stop-loss variant, so RUNX1 PM4 does not apply. Details ▾Hide ▴
Rule
RUNX1 VCEP PM4 framework
Evidence considered
- RUNX1 VCEP restricts PM4 to in-frame indels in specified regions or stop-loss variants.
Sources
PM5 N/ARUNX1 PM5 cannot be used when PM1 is applied at any strength. Because this variant meets PM1_Supporting, PM5 is not applicable in this framework. Details ▾Hide ▴
Rule
RUNX1 VCEP PM5 caveat
Evidence considered
- RUNX1 VCEP states PM5 cannot be used if PM1 was applied at any strength.
- This variant meets PM1_Supporting.
Sources
cspec ↗pm5_candidates
PP2 VCEPPP2 is not used by the RUNX1 VCEP. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks PP2 as not applicable.
Sources
PP4 VCEPPP4 is not applicable in the RUNX1 VCEP framework because the RUNX1-associated phenotype is not considered sufficiently specific for this criterion. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks PP4 as not applicable.
Sources
PP5 VCEPPP5 is not used by the RUNX1 VCEP. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks PP5 as not applicable.
Sources
BS2 VCEPBS2 is not applicable in the RUNX1 VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks BS2 as not applicable.
Sources
BP1 VCEPBP1 is not used by the RUNX1 VCEP. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks BP1 as not applicable.
Sources
BP3 VCEPBP3 is not applicable in the RUNX1 VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks BP3 as not applicable.
Sources
BP5 VCEPBP5 is not applicable in the RUNX1 VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks BP5 as not applicable.
Sources
BP6 VCEPBP6 is not used by the RUNX1 VCEP. Details ▾Hide ▴
VCEP rule
Not applicable per RUNX1 VCEP
Evidence considered
- RUNX1 VCEP marks BP6 as not applicable.
Sources
BP7 N/AThis is a missense variant, so BP7, which is restricted to synonymous and selected intronic variants in the RUNX1 VCEP framework, does not apply. Details ▾Hide ▴
Rule
RUNX1 VCEP BP7 framework
Evidence considered
- RUNX1 VCEP restricts BP7 to synonymous and intronic variants.
Sources
Identifiers
- Gene
- RUNX1
- Transcript
- NM_001001890.2
- Coding (HGVS c.)
- NM_001001890.2:c.569G>A
- Protein (HGVS p.)
- NP_001001890.1:p.(Gly190Glu)
- GRCh38
- chr21:34834565 C>T
- GRCh37
- chr21:36206862 C>T
- ClinVar
- 3791471
Gene diagram
Every interpreted variant in RUNX1, mapped onto the exon structure of NM_001001890.2. Select a row to find it on the plot.
RUNX1NM_001001890.2
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in RUNX1
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
Allele count data not recorded
gnomAD v2.1
1 / 250,682 alleles
AF 3.99e-06 · 0 homozygotes
By genetic ancestry
gnomAD v2.1
AF 4e-06 · 1 / 250,682 alleles · 0 hom
| European (non-Finnish)1 / 113,228 | 8.8e-06 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98912e-06; MAF= 0.00040%, 1/250682 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.83174e-06; MAF= 0.00088%, 1/113228 alleles, homozygotes = 0).
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.666
- BayesDel
- 0.313
How the predictions were used
PP3 Computational evidence does not meet the RUNX1 VCEP PP3 threshold. REVEL is 0.666, below the PP3 cutoff of 0.88, and SpliceAI is 0.01, below the splice threshold of 0.38. BayesDel is 0.313044, but RUNX1 PP3 is governed by the VCEP REVEL and SpliceAI thresholds. Details ▾Hide ▴
Rule
RUNX1 VCEP PP3 threshold
Evidence considered
- RUNX1 VCEP PP3 for missense variants requires REVEL >= 0.88 or SpliceAI >= 0.38.
- REVEL score: 0.666.
- SpliceAI max delta score: 0.01.
- BayesDel score: 0.313044.
Sources
BP4 Computational evidence does not meet the RUNX1 VCEP BP4 threshold. Although SpliceAI is low at 0.01, REVEL is 0.666, which is not below the BP4 missense threshold of 0.50. BayesDel is available at 0.313044 but does not override the RUNX1 VCEP REVEL and SpliceAI rule. Details ▾Hide ▴
Rule
RUNX1 VCEP BP4 threshold
Evidence considered
- RUNX1 VCEP BP4 for missense variants requires REVEL < 0.50 and SpliceAI <= 0.20.
- REVEL score: 0.666.
- SpliceAI max delta score: 0.01.
- BayesDel score: 0.313044.
Sources
BP7 N/AThis is a missense variant, so BP7, which is restricted to synonymous and selected intronic variants in the RUNX1 VCEP framework, does not apply. Details ▾Hide ▴
Rule
RUNX1 VCEP BP7 framework
Evidence considered
- RUNX1 VCEP restricts BP7 to synonymous and intronic variants.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.666. BayesDel score = 0.313044.
12 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 23619275 ↗ACMG position statement on prenatal/preconception expanded carrier screening.No paper-specific finding is recorded.
-
PMID 23652378 ↗A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.No paper-specific finding is recorded.
-
PMID 25626707 ↗Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.Howard HC et al. · 2015No paper-specific finding is recorded.
-
PMID 25730230 ↗Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.No paper-specific finding is recorded.
-
PMID 23169492 ↗The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes.Fears R et al. · 2013No paper-specific finding is recorded.
-
PMID 24121147 ↗Appropriateness of newborn screening for α1-antitrypsin deficiency.Teckman J et al. · 2014No paper-specific finding is recorded.
-
PMID 22947299 ↗Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening.Langer A et al. · 2012No paper-specific finding is recorded.
-
PMID 23037933 ↗Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.Therrell BL et al. · 2013No paper-specific finding is recorded.
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PMID 23881473 ↗Newborn screening: education, consent, and the residual blood spot. The position of the national society of genetic counselors.No paper-specific finding is recorded.
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PMID 24022298 ↗Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].No paper-specific finding is recorded.
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PMID 24394680 ↗Parental permission for pilot newborn screening research: guidelines from the NBSTRN.No paper-specific finding is recorded.
-
PMID 31022120 ↗ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist.No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
Captured gnomAD v4.1 source record
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.010
Open source ↗
ClinVar
1 Uncertain significance
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/135637580
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/3791471/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/21-36206862-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr21-34834565-C-T?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_001001890.2%3Ac.5…
- OncoKB ↗www.oncokb.org/gene/RUNX1/G190E
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=RUNX1+c.569G%3EA
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98912e-06; MAF= 0.00040%, 1/250682 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.83174e-06; MAF= 0.00088%, 1/113228 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Uncertain significance (1 clinical laboratory) and as Uncertain Significance by ClinGen Myeloid Malignancy Variant Curation Expert Panel (expert panel). (ClinVarID = 3791471)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.666. BayesDel score = 0.313044.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. RUNX1, a transcription factor involved in hematopoietic differentiation, is altered by mutation or chromosomal rearrangement in various hematologic ma
Somatic
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.