About STK11
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
STK11 c.580G>C, p.(Asp194His)
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 Not recorded. 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: 3
Benign evidence criteria: 0
Pathogenic criteria applied · 3
PM1Moderate
PM1 · moderate
c.580G>C (p.Asp194His) is located in exon 4 within the STK11 serine/threonine protein kinase domain (residues 49-309). Asp194 is a highly conserved catalytic base in the kinase active site (DLKPEN motif). The residue lies in a statistically significant mutational hotspot, and no benign missense variants have been observed at this residue in gnomAD. The variant is situated in a critical, well-established functional domain where pathogenic missense variation is enriched.
PM2Moderate
PM2 · moderate
NM_000455.5:c.580G>C is absent from gnomAD v2.1 (exomes) and gnomAD v4.1 (exomes + genomes), representing a combined survey of over 800,000 alleles without observation. The variant is also absent from gnomAD-Canada v1.0. This complete absence from large population databases meets PM2 at moderate strength under the generic ACMG/AMP framework (allele frequency <0.1%).
PP3Supporting
PP3 · supporting
Multiple lines of computational evidence support a deleterious effect. REVEL predicts a highly damaging score of 0.943 (threshold ≥0.75). BayesDel gives a score of 0.524 (threshold >0.27 for deleterious). SpliceAI predicts no splice impact (max delta = 0.02), which does not contradict the missense pathogenicity prediction. Two independent in silico algorithms concur on a damaging prediction, meeting PP3 at supporting strength.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PM1 moderate, PM2 moderate, PP3 supporting; combination = 2 moderate + 1 supporting, 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
Absent from gnomAD v2.1.
SpliceAI score
0.020 maximum delta
Recorded SpliceAI maximum delta score: 0.020. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
2 reported laboratory submissions
1 Uncertain significance · 1 Likely pathogenic.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
3 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV99045288, n = 3 times).
Cancer Hotspots
This variant lies in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
26 criteria with recorded statuses: 3 met · 17 not met · 2 not assessed · 4 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_000455.5:c.580G>C (p.Asp194His) is located in exon 4 of STK11, within the protein kinase domain catalytic loop (DLKPEN motif), a critical functional domain.
The variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada, representing coverage of over 800,000 alleles (PM2_moderate).
Asp194 is a statistically significant hotspot residue in the kinase active site, and no benign missense variants are observed at this codon in population databases (PM1_moderate).
Multiple in silico algorithms predict a deleterious effect: REVEL score 0.943, BayesDel score 0.524 (PP3_supporting).
SpliceAI predicts no significant splice impact (max delta = 0.02), consistent with a missense mechanism rather than splicing disruption.
The variant has been observed in somatic cancers (COSMIC COSV99045288, n=3), which is consistent with a potential oncogenic role but does not directly inform germline pathogenicity.
ClinVar contains two submissions: Uncertain Significance (Invitae, SCV001518979) and Likely Pathogenic (CeGaT, SCV002498394). Neither is from an expert panel.
No de novo observations, cosegregation data, or functional studies specific to p.Asp194His were identified in the literature.
The absence of variant-specific functional data, segregation evidence, and case-control studies limits the certainty of classification.
No criteria match.
Met · 3
PM1 Moderatec.580G>C (p.Asp194His) is located in exon 4 within the STK11 serine/threonine protein kinase domain (residues 49-309). Asp194 is a highly conserved catalytic base in the kinase active site (DLKPEN motif). The residue lies in a statistically significant mutational hotspot, and no benign missense variants have been observed at this residue in gnomAD. The variant is situated in a critical, well-established functional domain where pathogenic missense variation is enriched. Details ▾Hide ▴
Evidence considered
- Residue D194 located in kinase domain (residues 49-309)
- catalytic loop/active site
- Statistically significant hotspot residue
- No benign missense variants at codon 194 in gnomAD
- Conserved catalytic aspartate in the DLKPEN motif
Sources
PM2 ModerateNM_000455.5:c.580G>C is absent from gnomAD v2.1 (exomes) and gnomAD v4.1 (exomes + genomes), representing a combined survey of over 800,000 alleles without observation. The variant is also absent from gnomAD-Canada v1.0. This complete absence from large population databases meets PM2 at moderate strength under the generic ACMG/AMP framework (allele frequency <0.1%). Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: absent (0 alleles
- AF = 0)
- gnomAD v4.1: absent (0 alleles
- gnomAD-Canada v1.0: absent
Sources
PP3 SupportingMultiple lines of computational evidence support a deleterious effect. REVEL predicts a highly damaging score of 0.943 (threshold ≥0.75). BayesDel gives a score of 0.524 (threshold >0.27 for deleterious). SpliceAI predicts no splice impact (max delta = 0.02), which does not contradict the missense pathogenicity prediction. Two independent in silico algorithms concur on a damaging prediction, meeting PP3 at supporting strength. Details ▾Hide ▴
Evidence considered
- REVEL score: 0.943 (highly damaging)
- BayesDel score: 0.524 (deleterious)
- SpliceAI max delta: 0.02 (no splicing impact)
Sources
Not met · 17 · evaluated, threshold not reached
PS1 PS1 requires a different nucleotide change at the same codon producing the same amino acid change that is already established as pathogenic. No such comparator variant with a pathogenic classification was identified for p.Asp194His. The ClinVar and literature survey found no alternate nucleotide substitution (e.g., c.580G>A or c.580G>T) at codon 194 producing p.Asp194His with a pathogenic assertion. Details ▾Hide ▴
Evidence considered
- No alternate nucleotide change at codon 194 producing p.Asp194His found in ClinVar or literature
Still missing
- No alternate nucleotide substitution causing the same missense change identified
Sources
PS2 PS2 requires a de novo observation with both maternity and paternity confirmed in a patient with the disease and no family history. No de novo occurrence of NM_000455.5:c.580G>C has been reported in the literature, ClinVar, or other databases. An exploratory literature and database search returned no de novo reports for this variant. Details ▾Hide ▴
Evidence considered
- Exploratory search for de novo reports returned no results
- ClinVar contains no de novo origin submissions
Still missing
- No published de novo observations for this variant
Sources
PS3 PS3 requires well-established in vitro or in vivo functional studies demonstrating a damaging effect. No functional assays specifically testing the p.Asp194His (D194H) substitution were identified. OncoKB annotates the variant as 'Likely Oncogenic' with a 'Likely Loss-of-function' context, but this is a bioinformatic prediction rather than direct experimental evidence. Publications PMID:26917230 and PMID:34849607 discuss STK11 functional assessment but do not specifically assay NM_000455.5:c.580G>C in available abstracts. Details ▾Hide ▴
Evidence considered
- OncoKB Likely Oncogenic / Likely Loss-of-function — computational prediction
- not experimental
- No published functional assay for D194H found in literature screening
Still missing
- No direct functional data for p.Asp194His
- kinase activity assay or other functional study needed
Sources
PS4 PS4 requires the prevalence of the variant in affected individuals to be significantly increased compared to controls. The variant is absent from gnomAD v2.1 and v4.1 (0 alleles). ClinVar records two clinical laboratory submissions (1 Uncertain significance, 1 Likely pathogenic) without patient counts. No case-control study or cohort data quantifying prevalence in Peutz-Jeghers syndrome versus the general population is available. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1/v4.1: absent (0 alleles)
- ClinVar: 2 submissions
- no patient counts provided
Still missing
- No case-control or cohort data comparing variant frequency in PJS patients vs controls
Sources
PM6 PM6 requires a presumed de novo observation (without confirmation of both parents). No de novo reports — confirmed or presumed — were found for NM_000455.5:c.580G>C in literature, ClinVar, or other databases. Details ▾Hide ▴
Evidence considered
- Exploratory search: no de novo reports found
- ClinVar: no de novo origin submissions
Still missing
- No de novo observations reported
Sources
PP1 PP1 requires cosegregation of the variant with disease in multiple affected family members. No family studies or cosegregation data for NM_000455.5:c.580G>C have been reported in the literature. Details ▾Hide ▴
Evidence considered
- Exploratory search: no cosegregation or family study data found
Still missing
- No cosegregation or family linkage data available
PP5 PP5 requires a reputable source (e.g., clinical diagnostic laboratory with established quality systems) to report the variant as pathogenic. In ClinVar, this variant has one Likely Pathogenic classification (CeGaT, single submitter) and one Uncertain Significance classification (Invitae). The split classification and single-submitter status do not constitute a strong, reproducible pathogenic assertion from a reputable source sufficient for PP5. Additionally, PP5 is considered a legacy criterion and is generally discouraged in modern ACMG/AMP interpretation. Details ▾Hide ▴
Evidence considered
- ClinVar: 1 Likely Pathogenic (CeGaT)
- 1 Uncertain Significance (Invitae)
- No expert panel or consensus Pathogenic classification
Sources
BA1 BA1 requires an allele frequency >1% in a general population database. NM_000455.5:c.580G>C is absent from gnomAD v2.1 and v4.1 (0 alleles, allele frequency = 0). BA1 is clearly not met. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: absent (AF = 0)
- gnomAD v4.1: absent (AF = 0)
Sources
BS1 BS1 requires an allele frequency >0.3% in a general population database. The variant is absent from gnomAD v2.1 and v4.1. BS1 is not met. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: absent (AF = 0)
- gnomAD v4.1: absent (AF = 0)
Sources
BS2 BS2 requires observation of the variant in a healthy adult individual for a fully penetrant disorder expected to manifest at an early age. No such observation has been reported for NM_000455.5:c.580G>C. The variant is absent from gnomAD, which precludes identifying healthy adult carriers. Details ▾Hide ▴
Evidence considered
- Variant absent from gnomAD
- no healthy adult carriers identified
Still missing
- No observation in healthy adults to support benign classification
Sources
BS3 BS3 requires well-established in vitro or in vivo functional studies demonstrating no damaging effect. No functional assays evaluating the p.Asp194His substitution were identified. The OncoKB annotation of 'Likely Loss-of-function' suggests a damaging, not benign, functional consequence. PMID:26917230 and PMID:34849607 discuss STK11 functional assays but do not specifically evaluate p.Asp194His in available abstracts. Details ▾Hide ▴
Evidence considered
- No functional studies demonstrating benign effect for D194H
- OncoKB: Likely Loss-of-function (suggestive of damaging effect
- not benign)
Still missing
- No functional assay data available for D194H
Sources
BS4 BS4 requires lack of cosegregation of the variant with disease in affected family members (i.e., the variant does not segregate with disease). No family studies or non-segregation data have been reported for NM_000455.5:c.580G>C. Details ▾Hide ▴
Evidence considered
- No non-segregation or family discordance data available
Still missing
- No family studies to evaluate segregation or non-segregation
BP2 BP2 requires observation of the variant in trans with a known pathogenic variant in a gene for a fully penetrant dominant disorder, OR in cis with a pathogenic variant in a recessive disorder. No observation of NM_000455.5:c.580G>C in trans with a pathogenic STK11 variant has been reported. The variant is absent from gnomAD, precluding co-occurrence analysis. Details ▾Hide ▴
Evidence considered
- No observation in trans with a pathogenic STK11 variant
- Variant absent from gnomAD
- no co-occurrence data
Still missing
- No phase data or co-occurrence data available
Sources
BP4 BP4 requires multiple lines of computational evidence suggesting no impact on gene or gene product. REVEL predicts a damaging score of 0.943 and BayesDel predicts a deleterious score of 0.524. Both in silico predictors suggest a damaging, not benign, effect. BP4 is not met — the computational evidence favors a deleterious effect (see PP3). Details ▾Hide ▴
Evidence considered
- REVEL: 0.943 (damaging)
- BayesDel: 0.524 (deleterious)
Sources
revelbayesdel
BP5 BP5 requires the variant to be found in a case with an alternate molecular basis for disease. No such observation has been reported for NM_000455.5:c.580G>C in a patient with an alternative cause of Peutz-Jeghers syndrome or overlapping phenotype. Details ▾Hide ▴
Evidence considered
- No reports of variant in cases with alternate molecular diagnosis
Still missing
- No co-occurrence data with another causal variant
BP6 BP6 requires a reputable source to report the variant as benign or likely benign. In ClinVar, the variant has one Uncertain Significance classification (Invitae) and one Likely Pathogenic classification (CeGaT). No laboratory or expert panel has classified this variant as Benign or Likely Benign. Details ▾Hide ▴
Evidence considered
- ClinVar classifications: Uncertain Significance and Likely Pathogenic — no Benign/Likely Benign assertions
Sources
PS5 PS5 is a legacy ACMG criterion for when a reputable source reports a variant as pathogenic but the evidence is not independently available. This criterion is rarely applied in modern practice and has been largely superseded. No expert panel or multi-institutional consensus classification of Pathogenic exists for this variant. The single CeGaT Likely Pathogenic classification is insufficient to invoke PS5. Details ▾Hide ▴
Evidence considered
- ClinVar: 1 Likely Pathogenic (CeGaT
- single submitter)
- 1 Uncertain Significance (Invitae)
Still missing
- No expert panel or multi-submitter Pathogenic classification
Sources
Not assessed · 2 · no assessment recorded
PP2 PP2 requires a low rate of benign missense variation in the gene where missense variants are a common disease mechanism. STK11 is a tumor suppressor where missense variants are a recognized mechanism of Peutz-Jeghers syndrome, but the HCI prior score is not available for this gene, and population-level missense constraint metrics (e.g., Z-score, missense o/e) were not retrieved. Without these metrics, PP2 cannot be reliably assessed. Details ▾Hide ▴
Evidence considered
- HCI prior: not available for STK11
- Missense constraint data not retrieved
Still missing
- gnomAD missense constraint metrics (Z-score
- o/e) needed to assess PP2
- HCI prior score not available for STK11
PP4 PP4 requires the patient's phenotype or family history to be highly specific for a disease with a single genetic etiology. No proband-specific clinical data (personal or family history) were provided for this case. PP4 cannot be assessed without patient phenotype information. Details ▾Hide ▴
Evidence considered
- No patient phenotype or family history data available
Still missing
- Patient phenotype and family history not provided
Not applicable · 4· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/ANM_000455.5:c.580G>C is a missense variant (p.Asp194His) in exon 4. It is not a nonsense, frameshift, or canonical ±1,2 splice site variant. SpliceAI predicts no significant splice impact (max delta score = 0.02). The variant does not fall into any generic PVS1 null-variant bucket per ClinGen SVI PVS1 recommendations (PMC6185798). Details ▾Hide ▴
Evidence considered
- SpliceAI max delta score = 0.02 (no predicted splice disruption)
- Variant class: missense substitution
- pvs1_variant_assessment: apply_generic_pvs1_framework = false
Sources
spliceai ↗pvs1_variant_assessment
PM5 N/APM5 requires a different amino acid change at the same residue that is already established as pathogenic. No pathogenic comparator variants at codon 194 were identified in ClinVar or literature. The pm5_candidates pipeline found zero same-residue candidates. Details ▾Hide ▴
Evidence considered
- pm5_candidates: 0 same-residue comparator candidates found
- No pathogenic missense variants at codon 194 identified in ClinVar
Sources
pm5_candidatesclinvar ↗
BP1 N/ABP1 applies when a missense variant is found in a gene where only truncating variants are known to cause disease. STK11 missense variants are a well-established mechanism of Peutz-Jeghers syndrome, and numerous pathogenic missense variants have been reported in ClinVar and the literature. BP1 does not apply. Details ▾Hide ▴
Evidence considered
- STK11 missense variants are a recognized disease mechanism for PJS
- Multiple pathogenic missense variants reported in ClinVar
Sources
BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on the splice consensus sequence or the creation of a new splice site. NM_000455.5:c.580G>C is a missense variant (p.Asp194His), not a synonymous variant. BP7 is not applicable. Details ▾Hide ▴
Evidence considered
- Variant is missense (p.Asp194His)
- not synonymous
Identifiers
- Gene
- STK11
- Transcript
- NM_000455.5
- Coding (HGVS c.)
- NM_000455.5:c.580G>C
- Protein (HGVS p.)
- NP_000446.1:p.(Asp194His)
- GRCh38
- chr19:1220488 G>C
- GRCh37
- chr19:1220487 G>C
- ClinVar
- 1027310
- COSMIC
- COSV99045288
Gene diagram
Every interpreted variant in STK11, mapped onto the exon structure of NM_000455.5. Select a row to find it on the plot.
STK11NM_000455.5
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 STK11
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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
Allele count data not recorded
gnomAD-Canada v1.0
0 / 0 alleles
AF 0 · 0 homozygotes · FAF 0
By genetic ancestry
gnomAD-Canada
AF 0 · 0 / 0 alleles · 0 hom
Statements
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
Absent from gnomAD v2.1.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.943
- BayesDel
- 0.524
How the predictions were used
PP3 SupportingMultiple lines of computational evidence support a deleterious effect. REVEL predicts a highly damaging score of 0.943 (threshold ≥0.75). BayesDel gives a score of 0.524 (threshold >0.27 for deleterious). SpliceAI predicts no splice impact (max delta = 0.02), which does not contradict the missense pathogenicity prediction. Two independent in silico algorithms concur on a damaging prediction, meeting PP3 at supporting strength. Details ▾Hide ▴
Evidence considered
- REVEL score: 0.943 (highly damaging)
- BayesDel score: 0.524 (deleterious)
- SpliceAI max delta: 0.02 (no splicing impact)
Sources
BP4 BP4 requires multiple lines of computational evidence suggesting no impact on gene or gene product. REVEL predicts a damaging score of 0.943 and BayesDel predicts a deleterious score of 0.524. Both in silico predictors suggest a damaging, not benign, effect. BP4 is not met — the computational evidence favors a deleterious effect (see PP3). Details ▾Hide ▴
Evidence considered
- REVEL: 0.943 (damaging)
- BayesDel: 0.524 (deleterious)
Sources
revelbayesdel
BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on the splice consensus sequence or the creation of a new splice site. NM_000455.5:c.580G>C is a missense variant (p.Asp194His), not a synonymous variant. BP7 is not applicable. Details ▾Hide ▴
Evidence considered
- Variant is missense (p.Asp194His)
- not synonymous
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02). REVEL score = 0.943. BayesDel score = 0.524498.
9 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 26917230 ↗A Sensitive NanoString-Based Assay to Score STK11 (LKB1) Pathway Disruption in Lung Adenocarcinoma.No paper-specific finding is recorded.
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PMID 34849607 ↗Functional assessment of somatic STK11 variants identified in primary human non-small cell lung cancers.No paper-specific finding is recorded.
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PMID 10408777 ↗Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.Westerman AM et al. · 1999No paper-specific finding is recorded.
-
PMID 23718779 ↗High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.Borun P et al. · 2013No paper-specific finding is recorded.
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PMID 25645574 ↗ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.Syngal S et al. · 2015No paper-specific finding is recorded.
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PMID 31672839 ↗Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.No paper-specific finding is recorded.
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PMID 15604628 ↗Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.Trepanier A et al. · 2004No paper-specific finding is recorded.
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PMID 16582077 ↗Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.Hearle NC et al. · 2006No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.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 0.020
Open source ↗
ClinVar
1 Uncertain significance · 1 Likely pathogenic
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 ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/1027310/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/19-1220487-G-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr19-1220488-G-C?dataset=gnomad_r4
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000455.5%3Ac.580G…
- OncoKB ↗www.oncokb.org/gene/STK11/D194H
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=127242329
- 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
Absent from gnomAD v2.1.
ClinVar
This variant has been reported in ClinVar as Uncertain significance (1 clinical laboratory) and as Likely pathogenic (1 clinical laboratory). (ClinVarID = 1027310)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02). REVEL score = 0.943. BayesDel score = 0.524498.
Functional
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.
Somatic
This variant lies in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV99045288, n = 3 times).
Cancer Hotspots
This variant lies in a statistically significant hotspot.