About TP53
No gene-level summary was recorded for this case.
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Variant interpretation report
TP53 c.1136G>A, p.(Arg379His)
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 and meets the TP53 VCEP PM2 threshold. In gnomAD v4.1, the total allele frequency is 4.95699e-06, which is below the PM2 cutoff of 0.00003, and the joint grpmax filtering allele frequency is 4.43e-06. In gnomAD v2.1, the total allele frequency is 7.07234e-06, also below the threshold.
Benign criteria applied · 3
BS3Strong
BS3 · strong
Published TP53 functional evidence supports a benign effect. In the TP53 VCEP functional worksheet, p.Arg379His is classified as functional in the Kato assay set and as no loss of function in the Giacomelli assay set, with a pre-assigned BS3 code.
BP4Moderate
BP4 · moderate
Computational evidence supports a benign effect under the TP53 VCEP missense rules. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1136G>A with Align-GVGD class C0 and BayesDel -0.0720003, which is below the BP4_moderate cutoff of -0.008, and there is no predicted splice impact (worksheet SpliceAI 0.08; case SpliceAI max delta score 0.00, both below 0.2). REVEL is available at 0.338 and does not contradict the benign VCEP bioinformatic assignment.
BP6Supporting
BP6 · supporting
Expert panel ClinGen TP53 Variant Curation Expert Panel, ClinGen classified as Likely benign.
Recorded classification: Likely benign
Tavtigian et.al., 2020 - Bayesian adaptation of Richards et.al., 2015 v2.4.0 point-based framework: BS3 strong (-4) + BP4 moderate (-2) + PM2 supporting (+1) + BP6 supporting benign (-1) = -6 points, which maps to Likely Benign.
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
8 / 1,613,882 alleles
gnomAD v4.1: 8 / 1,613,882 alleles. Recorded AF 4.95699e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.07234e-06; MAF= 0.00071%, 2/282792 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 4.00641e-05; MAF= 0.00401%, 1/24960 alleles, homozygotes = 0).
No screenshot for this evidence
Computational predictions
Not recorded
No SpliceAI or REVEL score is recorded in the fields used for this tile.
ClinVar submissions
Not recorded
A ClinVar laboratory submission summary was not recorded.
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
Not assessed
No COSMIC evidence statement is recorded in this case.
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 · 6 not met · 8 not assessed · 10 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.1136G>A (p.Arg379His) variant has been reported in ClinVar, including a Likely Benign expert-panel assertion from the ClinGen TP53 Variant Curation Expert Panel.
This variant is rare in population databases, with a gnomAD v4.1 total allele frequency of 4.95699e-06 and joint grpmax filtering allele frequency of 4.43e-06, which supports PM2_Supporting and is below the BS1 and BA1 thresholds.
In published TP53 functional studies summarized by the TP53 VCEP functional worksheet, p.Arg379His was functional in the Kato assay set and showed no loss of function in the Giacomelli assay set, supporting BS3 and arguing against PS3.
TP53 VCEP in silico assessment supports a benign computational effect: the variant is assigned BP4_moderate in the TP53 bioinformatic worksheet, BayesDel is -0.0720003, SpliceAI shows no significant splice effect, and REVEL is 0.338.
No criteria match.
Met · 4
PM2 SupportingThis variant is rare in population databases and meets the TP53 VCEP PM2 threshold. In gnomAD v4.1, the total allele frequency is 4.95699e-06, which is below the PM2 cutoff of 0.00003, and the joint grpmax filtering allele frequency is 4.43e-06. In gnomAD v2.1, the total allele frequency is 7.07234e-06, also below the threshold. Details ▾Hide ▴
Rule
PM2 Supporting applies for AF <0.00003 in gnomAD or another large sequenced population.
Evidence considered
- gnomAD v4.1 total AF 4.95699e-06
- joint grpmax FAF 4.43e-06.
- gnomAD v2.1 total AF 7.07234e-06.
Sources
BS3 StrongPublished TP53 functional evidence supports a benign effect. In the TP53 VCEP functional worksheet, p.Arg379His is classified as functional in the Kato assay set and as no loss of function in the Giacomelli assay set, with a pre-assigned BS3 code. Details ▾Hide ▴
Rule
BS3 Strong for TP53 requires functional evidence showing no loss of function under the VCEP framework.
Evidence considered
- Functional worksheet row: R379H -> Kato Functional
- Giacomelli noLOF
- preliminary functional code BS3.
- TP53 VCEP functional flowchart supports BS3 when no loss of function is shown in eligible assays.
Sources
cspec ↗vcep_functional_worksheetvcep_flowchart_for_application_of_functional_rule_codesPMID:12826609 ↗PMID:30224644 ↗
BP4 ModerateComputational evidence supports a benign effect under the TP53 VCEP missense rules. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1136G>A with Align-GVGD class C0 and BayesDel -0.0720003, which is below the BP4_moderate cutoff of -0.008, and there is no predicted splice impact (worksheet SpliceAI 0.08; case SpliceAI max delta score 0.00, both below 0.2). REVEL is available at 0.338 and does not contradict the benign VCEP bioinformatic assignment. Details ▾Hide ▴
Rule
BP4 Moderate for TP53 missense variants requires BayesDel <= -0.008 and no predicted splicing effect (SpliceAI <0.2).
Evidence considered
- PP3/BP4 worksheet row: c.1136G>A -> BP4_moderate.
- BayesDel score -0.0720003.
- Worksheet SpliceAI 0.08 and case SpliceAI max delta 0.00.
- REVEL score 0.338.
Sources
cspec ↗vcep_pp3_bp4_codesvcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7bayesdelspliceai ↗revel
Not met · 6 · evaluated, threshold not reached
PVS1 This variant is a missense substitution and does not fall into the TP53 PVS1 null-variant categories. It is not a nonsense, frameshift, initiation-loss, or canonical +/-1,2 splice variant, and SpliceAI does not predict a splice effect (max delta score 0.00). Details ▾Hide ▴
Evidence considered
- Generic PVS1 scaffold categorized the variant outside null-variant buckets.
- SpliceAI max delta score 0.00.
- TP53 VCEP PVS1 guidance is for null/splice-disrupting variants.
Sources
PS3 Available functional evidence does not support loss of function for this variant. In the TP53 VCEP functional worksheet, p.Arg379His is classified as functional in the Kato assay set and as no loss of function in the Giacomelli assay set, so PS3 is not met. Details ▾Hide ▴
Rule
TP53 VCEP PS3 requires non-functional or loss-of-function assay evidence.
Evidence considered
- Functional worksheet row: R379H -> Kato Functional
- Giacomelli noLOF
- preliminary functional code BS3.
Sources
cspec ↗vcep_functional_worksheetvcep_flowchart_for_application_of_functional_rule_codesPMID:12826609 ↗PMID:30224644 ↗
PM1 Available evidence does not show that this missense variant is in a TP53 mutational hotspot that meets PM1. Arg379 is not one of the canonical TP53 hotspot codons, and the available Cancer Hotspots review did not identify this variant as lying in a statistically significant hotspot. Details ▾Hide ▴
Rule
PM1 applies to codons 175, 245, 248, 249, 273, 282 or qualifying Cancer Hotspots recurrence.
Evidence considered
- Arg379 is outside the canonical TP53 PM1 hotspot codons.
- Cancer Hotspots review reported no statistically significant hotspot for this variant.
Still missing
- Cancer Hotspots output was flagged for human review
- although no hotspot-supporting evidence was captured.
Sources
PP3 Available computational evidence does not support a damaging effect under the TP53 VCEP missense rules. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1136G>A, with Align-GVGD class C0, BayesDel -0.0720003, and no predicted splice impact; SpliceAI in the case data also shows no significant splice effect (max delta score 0.00). REVEL is available at 0.338 but does not override the TP53 VCEP rule assignment. Details ▾Hide ▴
Rule
TP53 VCEP PP3 missense thresholds are not met for this variant.
Evidence considered
- PP3/BP4 worksheet row: c.1136G>A -> Class C0
- BayesDel -0.0720003
- preliminary code BP4_moderate
- SpliceAI 0.08 in worksheet.
- Case SpliceAI max delta score 0.00.
- REVEL score 0.338.
Sources
cspec ↗vcep_pp3_bp4_codesvcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7bayesdelspliceai ↗revel
BA1 Population data do not meet the TP53 VCEP BA1 threshold. In gnomAD v4.1, the joint grpmax filtering allele frequency is 4.43e-06, which is below the BA1 cutoff of 0.001. Details ▾Hide ▴
Rule
BA1 requires FAF >=0.001 in an eligible gnomAD ancestry group.
Evidence considered
- gnomAD v4.1 joint grpmax FAF 4.43e-06.
- gnomAD v4.1 total AF 4.95699e-06.
- gnomAD v2.1 total AF 7.07234e-06.
Sources
BS1 Population data do not meet the TP53 VCEP BS1 threshold. In gnomAD v4.1, the joint grpmax filtering allele frequency is 4.43e-06, which is below the BS1 cutoff of 0.0003, and no eligible non-founder ancestry group shows a qualifying frequency at or above that threshold. Details ▾Hide ▴
Rule
BS1 Strong requires FAF >=0.0003 and <0.001 in an eligible gnomAD ancestry group.
Evidence considered
- gnomAD v4.1 joint grpmax FAF 4.43e-06.
- gnomAD v4.1 total AF 4.95699e-06.
- gnomAD v2.1 total AF 7.07234e-06.
Sources
Not assessed · 8 · no assessment recorded
PS1 No independently established TP53 VCEP pathogenic or likely pathogenic variant causing the same amino acid change was identified from the available evidence, so PS1 was not assessed. Details ▾Hide ▴
Evidence considered
- PS1 requires a previously established TP53 VCEP pathogenic/likely pathogenic variant with the same amino acid change and no splice difference.
Still missing
- No qualifying alternate nucleotide change producing p.Arg379His was identified with a TP53 VCEP pathogenic or likely pathogenic assertion.
Sources
PS2 No confirmed de novo occurrence data with a TP53 VCEP point tally were identified for this variant. Details ▾Hide ▴
Evidence considered
- TP53 VCEP PS2 requires de novo points-based evidence.
Still missing
- No maternity/paternity-confirmed de novo report was identified.
- No proband cancer-point information was identified for PS2 scoring.
Sources
cspec ↗vcep_table_of_lfs_cancers_and_points_for_ps2_and_pp1_code_application
PS4 This variant meets the TP53 VCEP population prerequisite for PS4 because the gnomAD allele frequency is below the PM2 threshold, but no proband-based Li-Fraumeni syndrome point tally was identified to determine PS4 strength. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 total AF 4.95699e-06 with grpmax FAF 4.43e-06.
- gnomAD v2.1 total AF 7.07234e-06.
- TP53 VCEP PS4 requires proband point scoring after PM2_Supporting is met.
Still missing
- No independent affected-proband point total was identified for TP53 VCEP PS4 scoring.
Sources
PM5 No qualifying TP53 VCEP pathogenic or likely pathogenic missense comparator variant at codon 379 was identified from the available evidence, so PM5 was not assessed. Details ▾Hide ▴
Evidence considered
- PM5 requires previously established TP53 VCEP pathogenic or likely pathogenic missense variants at the same residue.
Still missing
- No TP53 VCEP-classified pathogenic or likely pathogenic missense comparator variant at residue Arg379 was identified.
Sources
PP1 No segregation data were identified to assess co-segregation with Li-Fraumeni syndrome-associated cancers. Details ▾Hide ▴
Evidence considered
- TP53 VCEP PP1 requires 3 or more informative meioses for supporting-level evidence.
Still missing
- No informative meiosis count or pedigree-level segregation evidence was identified.
Sources
cspec ↗vcep_table_of_lfs_cancers_and_points_for_ps2_and_pp1_code_application
PP4 No phenotype-specific low-VAF observation data were identified to assess the TP53 VCEP PP4 rules for constitutional mosaicism or related clinical context. Details ▾Hide ▴
Evidence considered
- TP53 VCEP PP4 requires phenotype/VAF-based case observations.
Still missing
- Case-level phenotype details and variant allele fraction data were not identified.
Sources
BS2 No single-source series of unaffected older female carriers was identified to assess BS2 under the TP53 VCEP framework. Details ▾Hide ▴
Evidence considered
- TP53 VCEP BS2 requires unrelated females age 60 years or older without cancer from a single source.
Still missing
- No qualifying unaffected-carrier dataset was identified.
Sources
BS4 No family data were identified showing lack of segregation with Li-Fraumeni syndrome-associated cancers, so BS4 was not assessed. Details ▾Hide ▴
Evidence considered
- BS4 requires lack of segregation in affected family members.
Still missing
- No informative non-segregation data were identified.
Sources
Not applicable · 10· recorded as not applicable Show reasons ▾Hide reasons ▴
PM3 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
PM4 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
PM6 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
PP2 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
PP5 N/AThis criterion is not used in the TP53 VCEP framework. Details ▾Hide ▴
Rule
Not applicable for this VCEP
Evidence considered
- TP53 VCEP marks PP5 as not applicable.
Sources
BP1 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
BP2 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
BP3 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
BP5 N/AThis criterion is not applicable in the TP53 VCEP framework. Details ▾Hide ▴
BP7 N/ABP7 is intended for synonymous or qualifying intronic variants without splice impact. This variant is a missense substitution, so BP7 does not apply. Details ▾Hide ▴
Rule
BP7 applies to synonymous or qualifying intronic variants.
Evidence considered
- Variant consequence is missense: p.Arg379His.
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.1136G>A
- Protein (HGVS p.)
- NP_000537.3:p.(Arg379His)
- GRCh38
- chr17:7669655 C>T
- GRCh37
- chr17:7572973 C>T
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
8 / 1,613,882 alleles
AF 4.96e-06 · 0 homozygotes · FAF 4.43e-06
gnomAD v2.1
2 / 282,792 alleles
AF 7.07e-06 · 0 homozygotes
By genetic ancestry
gnomAD v4.1
AF 5e-06 · 8 / 1,613,882 alleles · 0 hom · FAF 4.4e-06
| Middle Eastern1 / 6,082 | 0.00016 |
| African/African American2 / 74,876 | 2.7e-05 |
| South Asian2 / 91,084 | 2.2e-05 |
| Admixed American1 / 59,974 | 1.7e-05 |
| European (non-Finnish)2 / 1,179,968 | 1.7e-06 |
0 alternate alleles recorded in 5 other groups: Remaining individuals, European (Finnish), Amish, East Asian, Ashkenazi Jewish.
gnomAD v2.1
AF 7.1e-06 · 2 / 282,792 alleles · 0 hom
| African/African American1 / 24,960 | 4e-05 |
| Admixed American1 / 35,440 | 2.8e-05 |
0 alternate alleles recorded in 6 other groups: Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 4.95699e-06; MAF= 0.00050%, 8/1613882 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.00016442; MAF= 0.01644%, 1/6082 alleles, homozygotes = 0); grpmax FAF= 4.43e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.07234e-06; MAF= 0.00071%, 2/282792 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 4.00641e-05; MAF= 0.00401%, 1/24960 alleles, homozygotes = 0).
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
BP4 ModerateComputational evidence supports a benign effect under the TP53 VCEP missense rules. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1136G>A with Align-GVGD class C0 and BayesDel -0.0720003, which is below the BP4_moderate cutoff of -0.008, and there is no predicted splice impact (worksheet SpliceAI 0.08; case SpliceAI max delta score 0.00, both below 0.2). REVEL is available at 0.338 and does not contradict the benign VCEP bioinformatic assignment. Details ▾Hide ▴
Rule
BP4 Moderate for TP53 missense variants requires BayesDel <= -0.008 and no predicted splicing effect (SpliceAI <0.2).
Evidence considered
- PP3/BP4 worksheet row: c.1136G>A -> BP4_moderate.
- BayesDel score -0.0720003.
- Worksheet SpliceAI 0.08 and case SpliceAI max delta 0.00.
- REVEL score 0.338.
Sources
cspec ↗vcep_pp3_bp4_codesvcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7bayesdelspliceai ↗revel
PP3 Available computational evidence does not support a damaging effect under the TP53 VCEP missense rules. The TP53 VCEP bioinformatic worksheet assigns BP4_moderate for c.1136G>A, with Align-GVGD class C0, BayesDel -0.0720003, and no predicted splice impact; SpliceAI in the case data also shows no significant splice effect (max delta score 0.00). REVEL is available at 0.338 but does not override the TP53 VCEP rule assignment. Details ▾Hide ▴
Rule
TP53 VCEP PP3 missense thresholds are not met for this variant.
Evidence considered
- PP3/BP4 worksheet row: c.1136G>A -> Class C0
- BayesDel -0.0720003
- preliminary code BP4_moderate
- SpliceAI 0.08 in worksheet.
- Case SpliceAI max delta score 0.00.
- REVEL score 0.338.
Sources
cspec ↗vcep_pp3_bp4_codesvcep_flowchart_for_application_of_pp3_2c_bp4_2c_and_bp7bayesdelspliceai ↗revel
BP7 N/ABP7 is intended for synonymous or qualifying intronic variants without splice impact. This variant is a missense substitution, so BP7 does not apply. Details ▾Hide ▴
Rule
BP7 applies to synonymous or qualifying intronic variants.
Evidence considered
- Variant consequence is missense: p.Arg379His.
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 = 0.338. BayesDel score = -0.0720003.
0 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
8 / 1,613,882 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Captured SpliceAI source record
Open source ↗
ClinVar
Captured ClinVar source record
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/246221/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/17-7572973-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr17-7669655-C-T?dataset=gnomad_r4
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000546.5%3Ac.1136…
- OncoKB ↗www.oncokb.org/gene/TP53/R379H
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=104590324
- 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= 4.95699e-06; MAF= 0.00050%, 8/1613882 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.00016442; MAF= 0.01644%, 1/6082 alleles, homozygotes = 0); grpmax FAF= 4.43e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 7.07234e-06; MAF= 0.00071%, 2/282792 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 4.00641e-05; MAF= 0.00401%, 1/24960 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Uncertain significance (6 clinical laboratories) and as Likely benign (1 clinical laboratory) and as Uncertain Significance (1 clinical laboratory) and as Likely Benign by ClinGen TP53 Variant Curation Expert Panel, ClinGen (expert panel).
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.338. BayesDel score = -0.0720003.
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 previously been reported in somatic cancers (COSMIC; COSV52708100, n = 5 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.