About BRCA1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA1 c.5200T>A, p.(Phe1734Ile)
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 BRCA1 VCEP v1.2.0. 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
PS3Strong
PS3 · strong
In a calibrated BRCA1 functional study, this variant showed loss of function similar to pathogenic control variants. The ENIGMA BRCA1/2 specification assigns PS3 at Strong strength for BRCA1 c.5200T>A (p.Phe1734Ile).
PP5Supporting
PP5 · supporting
Expert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Likely pathogenic.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
ENIGMA BRCA1 and BRCA2 Specification v1.2.0 final-classification framework (Table 3 criteria-combination rules).
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.
No listed criterion applied
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
6 reported laboratory submissions
3 Likely pathogenic · 2 Uncertain significance · 1 Pathogenic.
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. BRCA1, a tumor suppressor involved in the DNA damage response, is mutated in various cancer types.
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 BRCA1 VCEP v1.2.0, with the data and sources behind each one.
28 criteria with recorded statuses: 2 met · 8 not met · 7 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 BRCA1 c.5200T>A (p.Phe1734Ile; p.F1734I) variant has not been observed in COSMIC and has been reported in ClinVar, where the ClinGen ENIGMA BRCA1/2 expert panel classifies it as likely pathogenic.
This variant is absent from gnomAD v2.1 and gnomAD v4.1, supporting rarity, although the ENIGMA PM2_Supporting rule was not formally established from the available depth-specific evidence.
In a calibrated BRCA1 functional study, saturation genome editing showed loss of function similar to pathogenic control variants, and the ENIGMA BRCA1/2 specification assigns PS3 at Strong strength.
This missense change is located in the BRCA1 BRCT repeats; REVEL is 0.871, but under the ENIGMA computational rule the observed BayesDel score of 0.242362 and SpliceAI max delta score of 0.00 do not meet PP3 or BP4 thresholds.
No criteria match.
Met · 2
PS3 StrongIn a calibrated BRCA1 functional study, this variant showed loss of function similar to pathogenic control variants. The ENIGMA BRCA1/2 specification assigns PS3 at Strong strength for BRCA1 c.5200T>A (p.Phe1734Ile). Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PS3 Strong for calibrated damaging functional evidence.
Evidence considered
- Specifications Table 9 row for BRCA1 c.5200T>A assigns PS3 Strong.
- Supplementary functional dataset records c.5200T>A as Functional impact - complete / LOF.
Sources
vcep_specifications_table9_v1_2_2024_11_18PMID:30209399 ↗
PP5 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Likely pathogenic. Details ▾Hide ▴
Not met · 8 · evaluated, threshold not reached
PP3 This missense variant lies in the BRCA1 BRCT repeats, but the ENIGMA computational threshold for PP3 is not met. REVEL is 0.871, but the governing BRCA1 ENIGMA rule uses BayesDel and SpliceAI; BayesDel is 0.242362, which is below the PP3 threshold of 0.28, and SpliceAI predicts no splice impact with a max delta score of 0.00, below the splice threshold of 0.2. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP3 for domain missense variants requires BayesDel >=0.28, or SpliceAI >=0.2 for splicing predictions.
Evidence considered
- Protein position 1734 is within the BRCT repeats domain.
- BayesDel no-AF score = 0.242362.
- SpliceAI max delta score = 0.00.
- REVEL score = 0.871.
Sources
PP4 A BRCA1 clinical-history likelihood ratio was identified for this variant, but it does not reach the ENIGMA PP4 threshold. The observed likelihood ratio is 1.81 from 1 proband, which is below the PP4 Supporting threshold of 2.08. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP4 likelihood-ratio rule.
Evidence considered
- Clinical-history LR = 1.80825401697991.
- N_Probands = 1.
- PP4 Supporting requires LR >=2.08.
Sources
BA1 This variant is absent from gnomAD v2.1 and gnomAD v4.1 and therefore does not meet the ENIGMA BA1 frequency threshold of filter allele frequency greater than 0.1%. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BA1 population frequency rule.
Evidence considered
- Variant absent from gnomAD v2.1.
- Variant absent from gnomAD v4.1.
- BA1 requires FAF >0.001.
Sources
BS1 This variant is absent from gnomAD v2.1 and gnomAD v4.1 and therefore does not meet the ENIGMA BS1 frequency thresholds of filter allele frequency greater than 0.002% or greater than 0.01%, depending on strength. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS1 population frequency rule.
Evidence considered
- Variant absent from gnomAD v2.1.
- Variant absent from gnomAD v4.1.
- BS1 Supporting requires FAF >0.00002
- BS1 Strong requires FAF >0.0001.
Sources
BS3 Available functional evidence does not support normal BRCA1 function for this variant. Instead, the calibrated functional study showed loss of function similar to pathogenic control variants, which supports PS3 rather than BS3. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS3 requires well-established studies showing no damaging effect.
Evidence considered
- Specifications Table 9 assigns PS3 Strong
- not BS3.
- Findlay 2018 reported a loss-of-function result for c.5200T>A.
Sources
vcep_specifications_table9_v1_2_2024_11_18PMID:30209399 ↗
BP1 This missense variant is within the BRCA1 BRCT repeats, a clinically important functional domain, so it does not meet the ENIGMA BP1 requirement for a variant outside a clinically important domain. SpliceAI also predicts no splice effect, but the domain criterion is not satisfied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP1_Strong rule.
Evidence considered
- Protein position 1734 falls within the BRCT repeats (aa 1650-1857).
- BP1_Strong requires a missense or similar variant outside a clinically important functional domain and SpliceAI <=0.1.
- SpliceAI max delta score = 0.00.
Sources
BP4 This missense variant is within the BRCA1 BRCT repeats, but benign computational evidence is insufficient for BP4. SpliceAI predicts no splice impact with a max delta score of 0.00, meeting the splice portion of the rule, but BayesDel is 0.242362, which is above the BP4 threshold of 0.15. REVEL is also high at 0.871, which does not support a benign computational interpretation. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP4 for domain missense variants requires BayesDel <=0.15 and SpliceAI <=0.1.
Evidence considered
- Protein position 1734 is within the BRCT repeats domain.
- BayesDel no-AF score = 0.242362.
- SpliceAI max delta score = 0.00.
- REVEL score = 0.871.
Sources
BP5 A BRCA1 clinical-history likelihood ratio was identified for this variant, but it does not meet the ENIGMA BP5 threshold. The observed likelihood ratio is 1.81 from 1 proband, which is above the benign threshold of 0.48 and therefore falls in the neutral zone. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP5 likelihood-ratio rule.
Evidence considered
- Clinical-history LR = 1.80825401697991.
- N_Probands = 1.
- BP5 Supporting requires LR <=0.48.
Sources
Not assessed · 7 · no assessment recorded
PS1 No validated evidence was identified showing that this variant has the same amino acid change as a previously classified pathogenic or likely pathogenic variant, or the same predicted splice effect as a known pathogenic variant. PS1 was therefore not assessed from the available evidence. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PS1/PS1_Moderate/PS1_Supporting comparator-based rule.
Evidence considered
- ENIGMA BRCA1/2 PS1 requires a previously classified pathogenic or likely pathogenic comparator with the same amino acid or same splice effect.
Still missing
- No confirmed pathogenic or likely pathogenic same-amino-acid comparator was identified in the retrieved materials.
- No splice-equivalent pathogenic comparator was identified.
Sources
PS4 No case-control study or other quantitative enrichment analysis was identified showing that this variant is significantly more common in affected individuals than controls at the ENIGMA PS4 threshold. PS4 was not assessed from the available evidence. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PS4 requires significant enrichment in affected individuals versus controls.
Evidence considered
- ClinVar reporting alone does not establish ENIGMA PS4.
- No qualifying case-control evidence was identified in the reviewed materials.
Still missing
- No odds ratio or p-value meeting ENIGMA PS4 requirements was identified for this exact variant.
- No robust affected-versus-control prevalence dataset for this exact variant was identified.
Sources
PM2 This variant is absent from gnomAD v2.1 and gnomAD v4.1, which supports rarity. However, the ENIGMA PM2_Supporting rule specifically requires absence in gnomAD v2.1 and v3.1 with average read depth at least 25, and the required v3.1/depth-specific evidence was not identified here, so PM2 was not formally applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM2_Supporting rarity rule.
Evidence considered
- Absent from gnomAD v2.1.
- Absent from gnomAD v4.1.
- ENIGMA PM2_Supporting requires gnomAD v2.1 and v3.1 absence plus depth criteria.
Still missing
- No qualifying gnomAD v3.1 absence record was identified.
- No average read depth confirmation of at least 25 was identified for the region.
Sources
PM3 No evidence was identified for biallelic BRCA1 disease or a Fanconi anemia context with this variant. PM3 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM3 point-based recessive disease rule.
Evidence considered
- ENIGMA PM3 is reserved for BRCA1/2-related Fanconi anemia with a point-based framework.
Still missing
- No proband-level recessive disease data were identified.
- No trans co-occurrence data in BRCA1 Fanconi anemia were identified.
Sources
PP1 No segregation data were identified for this variant, so PP1 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP1 likelihood-ratio segregation rule.
Evidence considered
- ENIGMA PP1 requires quantitative co-segregation analysis.
Still missing
- No family-based likelihood ratio or meiosis count was identified.
- No pedigree-level segregation study for this exact variant was identified.
Sources
BS2 No proband-level data were identified showing this variant in individuals without features of BRCA1-related Fanconi anemia under the ENIGMA point-based framework. BS2 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS2 point-based rule.
Evidence considered
- ENIGMA BS2 uses a point-based framework tied to absence of Fanconi anemia features.
Still missing
- No individual-level BS2 point assignment data were identified.
- No recessive disease exclusion data were identified for this exact variant.
Sources
BS4 No lack-of-segregation data were identified for this variant, so BS4 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS4 likelihood-ratio non-segregation rule.
Evidence considered
- ENIGMA BS4 requires quantitative lack-of-segregation evidence.
Still missing
- No quantitative non-segregation likelihood ratio was identified.
- No pedigree data supporting BS4 were identified.
Sources
Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis variant is a missense substitution, BRCA1 p.(Phe1734Ile), rather than a nonsense, frameshift, canonical +/-1,2 splice, initiation-loss, or exon-level loss-of-function variant. Available evidence does not support a null-variant mechanism for this change, so PVS1 is not applicable. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PVS1 applies to null variants at appropriate strength; this missense variant does not meet that entry criterion.
Evidence considered
- BRCA1 is eligible for PVS1 in general under the ENIGMA framework
- but this specific variant is not in a PVS1 null-variant bucket.
- SpliceAI max delta score is 0.00
- providing no evidence for a splice-null interpretation.
Sources
PS2 VCEPDe novo evidence is not used for this framework, so PS2 is not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists PS2 as not applicable for this specification.
Sources
PM1 VCEPPM1 is not applicable in this ENIGMA BRCA1/2 framework, even for variants in clinically important domains. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists PM1 as not applicable.
Sources
PM4 VCEPPM4 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists PM4 as not applicable.
Sources
PM5 N/AIn this BRCA1 ENIGMA framework, PM5 is repurposed for protein-truncating variants in eligible exons rather than classic same-residue missense logic. Because this variant is a missense substitution and not a protein-truncating variant, PM5 is not applicable. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM5_PTC rule.
Evidence considered
- pm5_candidates.json identifies PM5 mode as ptc_gene_specific and not applicable to classic same-residue missense review.
- ENIGMA PM5 in BRCA1 is used for PTC variants with exon-specific weighting.
Sources
PM6 VCEPPM6 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists PM6 as not applicable.
Sources
PP2 VCEPPP2 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists PP2 as not applicable.
Sources
BP2 VCEPBP2 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists BP2 as not applicable.
Sources
BP3 VCEPBP3 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists BP3 as not applicable.
Sources
BP6 VCEPBP6 is not applicable in this ENIGMA BRCA1/2 framework. Details ▾Hide ▴
VCEP rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- CSPEC lists BP6 as not applicable.
Sources
BP7 N/ABP7 in this framework applies to silent or qualifying intronic variants, or RNA-only evidence scenarios. This variant is a missense substitution, so BP7 is not applicable. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP7 rule.
Evidence considered
- ENIGMA BP7 rules are restricted to silent
- intronic
- or RNA-specific contexts.
Sources
Identifiers
- Gene
- BRCA1
- Transcript
- NM_007294.3
- Coding (HGVS c.)
- NM_007294.3:c.5200T>A
- Protein (HGVS p.)
- NP_009225.1:p.(Phe1734Ile)
- GRCh38
- chr17:43057129 A>T
- GRCh37
- chr17:41209146 A>T
- ClinVar
- 869015, 868357, 867684, 867635, 865265, 232047
Gene diagram
Every interpreted variant in BRCA1, mapped onto the exon structure of NM_007294.3. Select a row to find it on the plot.
BRCA1NM_007294.3
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 BRCA1
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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
Statements
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
Absent from gnomAD v2.1.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.871
- BayesDel
- 0.242
How the predictions were used
PP3 This missense variant lies in the BRCA1 BRCT repeats, but the ENIGMA computational threshold for PP3 is not met. REVEL is 0.871, but the governing BRCA1 ENIGMA rule uses BayesDel and SpliceAI; BayesDel is 0.242362, which is below the PP3 threshold of 0.28, and SpliceAI predicts no splice impact with a max delta score of 0.00, below the splice threshold of 0.2. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP3 for domain missense variants requires BayesDel >=0.28, or SpliceAI >=0.2 for splicing predictions.
Evidence considered
- Protein position 1734 is within the BRCT repeats domain.
- BayesDel no-AF score = 0.242362.
- SpliceAI max delta score = 0.00.
- REVEL score = 0.871.
Sources
BP4 This missense variant is within the BRCA1 BRCT repeats, but benign computational evidence is insufficient for BP4. SpliceAI predicts no splice impact with a max delta score of 0.00, meeting the splice portion of the rule, but BayesDel is 0.242362, which is above the BP4 threshold of 0.15. REVEL is also high at 0.871, which does not support a benign computational interpretation. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP4 for domain missense variants requires BayesDel <=0.15 and SpliceAI <=0.1.
Evidence considered
- Protein position 1734 is within the BRCT repeats domain.
- BayesDel no-AF score = 0.242362.
- SpliceAI max delta score = 0.00.
- REVEL score = 0.871.
Sources
BP7 N/ABP7 in this framework applies to silent or qualifying intronic variants, or RNA-only evidence scenarios. This variant is a missense substitution, so BP7 is not applicable. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP7 rule.
Evidence considered
- ENIGMA BP7 rules are restricted to silent
- intronic
- or RNA-specific contexts.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.871. BayesDel score = 0.242362.
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 23918944 ↗Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.No paper-specific finding is recorded.
-
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.
-
PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.No paper-specific finding is recorded.
-
PMID 30209399 ↗Accurate classification of BRCA1 variants with saturation genome editing.Findlay GM et al. · 2018No paper-specific finding is recorded.
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PMID 31853058 ↗Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.Li H et al. · 2020No paper-specific finding is recorded.
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PMID 35196514 ↗The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays.Adamovich AI et al. · 2022No 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.No paper-specific finding is recorded.
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PMID 17392385 ↗American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.No 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 0.000
Open source ↗
ClinVar
3 Likely pathogenic · 2 Uncertain significance · 1 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 ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/1530970787
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/232047/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/17-41209146-A-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr17-43057129-A-T?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_007294.3%3Ac.5200…
- OncoKB ↗www.oncokb.org/gene/BRCA1/F1734I
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BRCA1+c.5200T%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
Absent from gnomAD v2.1.
ClinVar
This variant has been reported in ClinVar as Likely pathogenic (3 clinical laboratories) and as Uncertain significance (2 clinical laboratories) and as Pathogenic (1 clinical laboratory) and as Likely Pathogenic by ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen (expert panel). (ClinVarID = 232047)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.871. BayesDel score = 0.242362.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. BRCA1, a tumor suppressor involved in the DNA damage response, is mutated in various cancer types.
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.