About TP53
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
TP53 c.1066G>C, p.(Gly356Arg)
Classification
Likely benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely benign. Select a step to read what it means.
Likely benign.A likely benign classification under the recorded framework.
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 TP53 VCEP v2.4.0. 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: 1
Benign evidence criteria: 3
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
This variant is rare in population databases. In gnomAD v4.1, the total allele frequency is 4.34e-06 and the grpmax filtering allele frequency is 2.47e-06, both below the TP53 VCEP PM2 threshold of 3.0e-05; it is also absent from gnomAD-Canada.
Benign criteria applied · 3
BS3Strong
BS3 · strong
Published TP53 functional evidence supports retained protein function. In the TP53 VCEP functional worksheet, p.Gly356Arg is classified as Functional in Kato-class data and noLOF in Giacomelli-class data, with a preliminary functional code of BS3.
BP4Moderate
BP4 · moderate
Computational evidence supports a benign interpretation. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1066G>C; BayesDel is -0.347259, which is below the BP4_Moderate threshold of -0.008, and SpliceAI predicts no splice effect (max delta score 0.00). REVEL is also low at 0.138.
BP6Supporting
BP6 · supporting
Expert panel ClinGen TP53 Variant Curation Expert Panel, ClinGen classified as Likely benign.
Recorded classification: Likely benign
TP53 ClinGen VCEP v2.4.0 Tavtigian point-based framework from the CSPEC final-classification ruleset; PM2_Supporting (+1), BS3_Strong (-4), BP4_Moderate (-2), and BP6_Supporting_Benign (-1) yield a total of -6 points.
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
7 / 1,613,958 alleles
gnomAD v4.1: 7 / 1,613,958 alleles. Recorded AF 4.33716e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98721e-06; MAF= 0.00040%, 1/250802 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.82208e-06; MAF= 0.00088%, 1/113352 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
10 reported laboratory submissions
6 Uncertain significance · 3 Likely benign · 1 Uncertain Significance.
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. TP53, a tumor suppressor in the DNA damage pathway, is the most frequently mutated gene in cancer.
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 TP53 VCEP v2.4.0, with the data and sources behind each one.
28 criteria with recorded statuses: 4 met · 7 not met · 6 not assessed · 11 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The TP53 c.1066G>C (p.Gly356Arg) variant has been reported in ClinVar, where the ClinGen TP53 Variant Curation Expert Panel classified it as Likely Benign.
This variant is rare in population databases, with gnomAD v4.1 total allele frequency 4.34e-06, grpmax filtering allele frequency 2.47e-06, gnomAD v2.1 total allele frequency 3.99e-06, and no observation in gnomAD-Canada, which supports PM2 at a supporting level but is well below BA1 and BS1 thresholds.
In the TP53 VCEP functional worksheet, p.Gly356Arg is classified as Functional in Kato-class data and noLOF in Giacomelli-class data, supporting BS3 and arguing against PS3.
TP53-specific computational assessment supports a benign interpretation: the TP53 VCEP bioinformatic worksheet assigns BP4_moderate, BayesDel is -0.347259, SpliceAI predicts no splice effect with max delta score 0.00, and REVEL is 0.138.
No criteria match.
Met · 4
PM2 SupportingThis variant is rare in population databases. In gnomAD v4.1, the total allele frequency is 4.34e-06 and the grpmax filtering allele frequency is 2.47e-06, both below the TP53 VCEP PM2 threshold of 3.0e-05; it is also absent from gnomAD-Canada. Details ▾Hide ▴
Rule
TP53 VCEP PM2_Supporting: AF < 0.00003 and no disqualifying ancestry-specific frequency
Evidence considered
- gnomAD v4.1 total AF 4.33716e-06
- grpmax FAF 2.47e-06
- best subpopulation AF 5.93229e-06.
- gnomAD v2.1 total AF 3.98721e-06.
- Absent from gnomAD-Canada v1.0.
Sources
BS3 StrongPublished TP53 functional evidence supports retained protein function. In the TP53 VCEP functional worksheet, p.Gly356Arg is classified as Functional in Kato-class data and noLOF in Giacomelli-class data, with a preliminary functional code of BS3. Details ▾Hide ▴
Rule
TP53 VCEP BS3 Strong
Evidence considered
- Functional worksheet row: G356R
- Kato class Functional
- Giacomelli class noLOF
- preliminary functional code BS3.
Sources
vcep_functional_worksheetvcep_flowchart_for_application_of_functional_rule_codesPMID:12826609 ↗cspec ↗
BP4 ModerateComputational evidence supports a benign interpretation. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1066G>C; BayesDel is -0.347259, which is below the BP4_Moderate threshold of -0.008, and SpliceAI predicts no splice effect (max delta score 0.00). REVEL is also low at 0.138. Details ▾Hide ▴
Rule
TP53 VCEP BP4 Moderate
Evidence considered
- PP3/BP4 worksheet row: c.1066G>C
- Class C0
- BayesDel -0.347259
- preliminary code BP4_moderate
- worksheet SpliceAI 0.01.
- Local SpliceAI max delta score 0.00.
- REVEL score 0.138.
Sources
Not met · 7 · evaluated, threshold not reached
PS1 An alternative nucleotide change producing the same amino acid substitution at codon 356 is present in ClinVar, but it does not provide a prior TP53 VCEP pathogenic or likely pathogenic assertion that would support PS1. Details ▾Hide ▴
Rule
TP53 VCEP PS1 requires a previously established TP53 VCEP P/LP variant with the same amino acid change
Evidence considered
- ClinVar includes NM_000546.6(TP53):c.1066G>A (p.Gly356Arg) with conflicting classifications rather than a qualifying pathogenic or likely pathogenic TP53 VCEP assertion.
Sources
PS3 Available TP53 functional evidence does not support a damaging effect. In the TP53 VCEP functional worksheet, p.Gly356Arg is listed as functional in Kato-class data and as no loss of function in Giacomelli-class data, which argues against PS3. Details ▾Hide ▴
Rule
TP53 VCEP PS3 requires non-functional/LOF assay results
Evidence considered
- Functional worksheet row: G356R
- Kato class Functional
- Giacomelli class noLOF
- preliminary functional code BS3.
Sources
vcep_functional_worksheetvcep_flowchart_for_application_of_functional_rule_codesPMID:12826609 ↗cspec ↗
PM1 This codon is not one of the TP53 codons explicitly specified for PM1, and no Cancer Hotspots hotspot row was identified for p.Gly356Arg. Details ▾Hide ▴
Rule
TP53 VCEP PM1 hotspot/codon-specific framework
Evidence considered
- TP53 VCEP codon list for PM1 does not include codon 356.
- Cancer Hotspots review did not identify a hotspot row for G356.
Sources
PM5 Other missense changes at codon 356 identified in ClinVar do not provide qualifying TP53 VCEP pathogenic or likely pathogenic same-residue comparator evidence for PM5. Details ▾Hide ▴
Rule
TP53 VCEP PM5 requires prior TP53 VCEP pathogenic or likely pathogenic missense variants at the same residue
Evidence considered
- ClinVar includes p.Gly356Trp and p.Gly356Ala without qualifying TP53 VCEP P/LP comparator evidence.
- The available PM5 candidate artifact did not identify qualifying same-residue comparators.
Sources
PP3 Available computational evidence does not support a damaging effect. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1066G>C; BayesDel is -0.347259, SpliceAI max delta score is 0.00, and REVEL is 0.138. Details ▾Hide ▴
Rule
TP53 VCEP PP3 requires qualifying damaging bioinformatic evidence
Evidence considered
- PP3/BP4 worksheet row: c.1066G>C
- Class C0
- BayesDel -0.347259
- preliminary code BP4_moderate
- worksheet SpliceAI 0.01.
- Local SpliceAI max delta score 0.00.
- REVEL score 0.138.
Sources
BA1 Population data do not reach the TP53 VCEP BA1 threshold. The gnomAD v4.1 grpmax filtering allele frequency is 2.47e-06, which is below the BA1 threshold of 0.001. Details ▾Hide ▴
Rule
TP53 VCEP BA1 requires FAF ≥ 0.001
Evidence considered
- gnomAD v4.1 grpmax FAF 2.47e-06.
Sources
BS1 Population data do not reach the TP53 VCEP BS1 threshold. The gnomAD v4.1 grpmax filtering allele frequency is 2.47e-06, which is below the BS1 threshold of 0.0003. Details ▾Hide ▴
Rule
TP53 VCEP BS1 requires FAF ≥ 0.0003 and < 0.001
Evidence considered
- gnomAD v4.1 grpmax FAF 2.47e-06.
Sources
Not assessed · 6 · no assessment recorded
PS2 No confirmed de novo observation with sufficient parental testing and phenotype scoring was identified for this variant. Details ▾Hide ▴
Rule
TP53 VCEP PS2 point-based de novo framework
Evidence considered
- Reviewed ClinVar-linked materials did not provide confirmed de novo evidence for this variant.
Still missing
- Case-level parental testing and phenotype point data were not available.
Sources
PS4 No phenotype-weighted Li-Fraumeni syndrome proband data were identified to support PS4, although this criterion remains potentially assessable only after PM2 is met. Details ▾Hide ▴
Rule
TP53 VCEP PS4 point-based proband framework
Evidence considered
- Population data are compatible with PM2_Supporting
- but no PS4 point evidence was identified.
Still missing
- No TP53 VCEP point-scored proband observations were available.
Sources
PP1 No informative cosegregation data were identified for this variant. Details ▾Hide ▴
PP4 No low-variant-allele-fraction constitutional mosaicism evidence or other TP53-specific PP4 clinical context was identified for this variant. Details ▾Hide ▴
Rule
TP53 VCEP PP4 low-VAF constitutional mosaicism framework
Evidence considered
- No TP53-specific PP4 evidence was identified in the reviewed materials.
Still missing
- No VAF-based constitutional mosaicism observations were available.
Sources
BS2 No single-source dataset of unaffected older female carriers was identified for this variant. Details ▾Hide ▴
Rule
TP53 VCEP BS2 unaffected older female carrier framework
Evidence considered
- No TP53 VCEP BS2 carrier dataset was identified.
Still missing
- No source with 2 or more unrelated unaffected female carriers aged 60 years or older was available.
Sources
BS4 No informative lack-of-segregation data were identified for this variant. Details ▾Hide ▴
Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis missense variant does not fall within the TP53 null-variant or canonical splice categories used for PVS1, and SpliceAI predicts no splice effect (max delta score 0.00). Details ▾Hide ▴
Rule
TP53 VCEP / PVS1 decision tree: not applicable to this missense variant
Evidence considered
- TP53 VCEP PVS1 framework is gene-eligible
- but this variant is a missense substitution rather than a null or canonical splice variant.
- SpliceAI max delta score is 0.00.
Sources
PM3 VCEPPM3 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks PM3 as not applicable.
Sources
PM4 VCEPPM4 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks PM4 as not applicable.
Sources
PM6 VCEPPM6 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks PM6 as not applicable.
Sources
PP2 VCEPPP2 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks PP2 as not applicable.
Sources
PP5 VCEPPP5 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks PP5 as not applicable.
Sources
BP1 VCEPBP1 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks BP1 as not applicable.
Sources
BP2 VCEPBP2 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks BP2 as not applicable.
Sources
BP3 VCEPBP3 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks BP3 as not applicable.
Sources
BP5 VCEPBP5 is not used for TP53 in this framework. Details ▾Hide ▴
VCEP rule
Not applicable in TP53 VCEP
Evidence considered
- TP53 VCEP marks BP5 as not applicable.
Sources
BP7 N/ABP7 applies to synonymous or qualifying intronic variants, not to this missense variant. Details ▾Hide ▴
Rule
TP53 VCEP BP7 variant-type restriction
Evidence considered
- This variant is a missense substitution.
Sources
cspec ↗vcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7
Identifiers
- Gene
- TP53
- Transcript
- NM_000546.5
- Coding (HGVS c.)
- NM_000546.5:c.1066G>C
- Protein (HGVS p.)
- NP_000537.3:p.(Gly356Arg)
- GRCh38
- chr17:7670643 C>G
- GRCh37
- chr17:7573961 C>G
- ClinVar
- 234059
Gene diagram
Every interpreted variant in TP53, mapped onto the exon structure of NM_000546.5. Select a row to find it on the plot.
TP53NM_000546.5
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 TP53
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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
7 / 1,613,958 alleles
AF 4.34e-06 · 0 homozygotes · FAF 2.47e-06
gnomAD v2.1
1 / 250,802 alleles
AF 3.99e-06 · 0 homozygotes
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 4.3e-06 · 7 / 1,613,958 alleles · 0 hom · FAF 2.5e-06
| European (non-Finnish)7 / 1,179,982 | 5.9e-06 |
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 4e-06 · 1 / 250,802 alleles · 0 hom
| European (non-Finnish)1 / 113,352 | 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
This variant is present in gnomAD v4.1 (AF= 4.33716e-06; MAF= 0.00043%, 7/1613958 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.93229e-06; MAF= 0.00059%, 7/1179982 alleles, homozygotes = 0); grpmax FAF= 2.47e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98721e-06; MAF= 0.00040%, 1/250802 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.82208e-06; MAF= 0.00088%, 1/113352 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.138
- BayesDel
- -0.347
How the predictions were used
BP4 ModerateComputational evidence supports a benign interpretation. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1066G>C; BayesDel is -0.347259, which is below the BP4_Moderate threshold of -0.008, and SpliceAI predicts no splice effect (max delta score 0.00). REVEL is also low at 0.138. Details ▾Hide ▴
Rule
TP53 VCEP BP4 Moderate
Evidence considered
- PP3/BP4 worksheet row: c.1066G>C
- Class C0
- BayesDel -0.347259
- preliminary code BP4_moderate
- worksheet SpliceAI 0.01.
- Local SpliceAI max delta score 0.00.
- REVEL score 0.138.
Sources
PP3 Available computational evidence does not support a damaging effect. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1066G>C; BayesDel is -0.347259, SpliceAI max delta score is 0.00, and REVEL is 0.138. Details ▾Hide ▴
Rule
TP53 VCEP PP3 requires qualifying damaging bioinformatic evidence
Evidence considered
- PP3/BP4 worksheet row: c.1066G>C
- Class C0
- BayesDel -0.347259
- preliminary code BP4_moderate
- worksheet SpliceAI 0.01.
- Local SpliceAI max delta score 0.00.
- REVEL score 0.138.
Sources
BP7 N/ABP7 applies to synonymous or qualifying intronic variants, not to this missense variant. Details ▾Hide ▴
Rule
TP53 VCEP BP7 variant-type restriction
Evidence considered
- This variant is a missense substitution.
Sources
cspec ↗vcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.138. BayesDel score = -0.347259.
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 20978130 ↗Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.No paper-specific finding is recorded.
-
PMID 12826609 ↗Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.Kato S et al. · 2003No paper-specific finding is recorded.
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PMID 21343334 ↗Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.Monti P et al. · 2011No paper-specific finding is recorded.
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PMID 21519010 ↗TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.Jädersten M et al. · 2011No paper-specific finding is recorded.
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PMID 24356096 ↗Molecular profiling of the residual disease of triple-negative breast cancers after neoadjuvant chemotherapy identifies actionable therapeutic targets.Balko JM et al. · 2014No paper-specific finding is recorded.
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PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.No paper-specific finding is recorded.
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PMID 25952993 ↗TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases.Ok CY et al. · 2015No paper-specific finding is recorded.
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PMID 26230955 ↗TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.Hou HA et al. · 2015No 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
7 / 1,613,958 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.000
Open source ↗
ClinVar
6 Uncertain significance · 3 Likely benign · 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/135637581
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/234059/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/17-7573961-C-G?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr17-7670643-C-G?dataset=gnomad_r4
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/17-7670643-C-G
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000546.5%3Ac.1066…
- OncoKB ↗www.oncokb.org/gene/TP53/G356R
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=TP53+c.1066G%3EC
- 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
This variant is present in gnomAD v4.1 (AF= 4.33716e-06; MAF= 0.00043%, 7/1613958 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.93229e-06; MAF= 0.00059%, 7/1179982 alleles, homozygotes = 0); grpmax FAF= 2.47e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98721e-06; MAF= 0.00040%, 1/250802 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.82208e-06; MAF= 0.00088%, 1/113352 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
ClinVar
This variant has been reported in ClinVar as Uncertain significance (6 clinical laboratories) and as Likely benign (3 clinical laboratories) and as Uncertain Significance (1 clinical laboratory) and as Likely Benign by ClinGen TP53 Variant Curation Expert Panel, ClinGen (expert panel). (ClinVarID = 234059)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.138. BayesDel score = -0.347259.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. TP53, a tumor suppressor in the DNA damage pathway, is the most frequently mutated gene in cancer.
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.