About BRCA1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA1 c.4450T>G, p.(Ser1484Ala)
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 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: 1
Benign evidence criteria: 1
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
This variant is absent from gnomAD v2.1 (non-cancer, exome only) and gnomAD v4.1 (non-cancer), meeting ENIGMA PM2_Supporting. The variant is absent from all outbred population controls in these databases.
Benign criteria applied · 1
BP1Strong
BP1 · strong
This missense variant (p.Ser1484Ala) is located at amino acid position 1484, which lies outside all ENIGMA-defined clinically important functional domains (RING aa 2-101, coiled-coil aa 1391-1424, BRCT repeats aa 1650-1857). SpliceAI predicts no splicing impact (max delta score = 0.03, ≤0.1). This meets ENIGMA BP1_Strong per the specification: missense variant outside a clinically important functional domain AND no splicing predicted.
Recorded classification: Likely benign
ENIGMA BRCA1 v1.2.0 point system for conflicting evidence: PM2_Supporting (+1 pathogenic) + BP1_Strong (-4 benign) = -3 total points. Range -6 to -2 = 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
Not recorded
gnomAD v4.1 allele counts were not recorded for this variant.
gnomAD v2.1
Absent from gnomAD v2.1.
SpliceAI score
0.030 maximum delta
Recorded SpliceAI maximum delta score: 0.030. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
3 reported laboratory submissions
3 Uncertain significance.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. BRCA1, a tumor suppressor involved in the DNA damage response, is mutated in various cancer types.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen BRCA1 VCEP v1.2.0, with the data and sources behind each one.
26 criteria with recorded statuses: 2 met · 14 not met · 0 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
NM_007294.4:c.4450T>G (p.Ser1484Ala) is a missense variant in BRCA1 exon 13 located at amino acid position 1484, outside all ENIGMA-defined clinically important functional domains (RING aa 2-101, coiled-coil aa 1391-1424, BRCT repeats aa 1650-1857). SpliceAI predicts no splicing impact (max delta 0.03).
This variant is absent from gnomAD v2.1 and v4.1 population databases, meeting ENIGMA PM2_Supporting.
The variant meets ENIGMA BP1_Strong: missense variant outside a clinically important functional domain with no predicted splicing impact (SpliceAI max delta 0.03 ≤0.1).
This variant is not listed in ENIGMA Table9 (curated functional assays) or ST4 (functional assay results) for either PS3 or BS3. The related variant c.4450T>A (p.Ser1484Thr) has BS3_Strong with 'No functional impact,' but this is a different amino acid substitution and does not constitute direct evidence for p.Ser1484Ala.
No case-control, segregation, or clinical-history likelihood ratio data were identified for this specific variant. It is not listed in the Li et al. 2020 (PMID:31853058) clinical-history LR table; c.4450T>A is listed with neutral LR=1.066.
In ClinVar, this variant is classified as Uncertain Significance by three clinical laboratories (ClinVar ID 630099). No expert panel classification is available.
Under the ENIGMA Table 3 all_of combination rules, one Strong Benign criterion (BP1_Strong) with no qualifying Supporting Benign or Moderate Benign criterion does not meet the Likely Benign threshold (requires Strong Benign + Supporting Benign or Strong Benign + Moderate Benign). The conflicting PM2_Supporting (pathogenic direction) further precludes a benign or likely benign classification. The variant remains a Variant of Uncertain Significance.
No criteria match.
Met · 2
PM2 SupportingThis variant is absent from gnomAD v2.1 (non-cancer, exome only) and gnomAD v4.1 (non-cancer), meeting ENIGMA PM2_Supporting. The variant is absent from all outbred population controls in these databases. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1 (exome).
- Absent from gnomAD v4.1.
Sources
BP1 StrongThis missense variant (p.Ser1484Ala) is located at amino acid position 1484, which lies outside all ENIGMA-defined clinically important functional domains (RING aa 2-101, coiled-coil aa 1391-1424, BRCT repeats aa 1650-1857). SpliceAI predicts no splicing impact (max delta score = 0.03, ≤0.1). This meets ENIGMA BP1_Strong per the specification: missense variant outside a clinically important functional domain AND no splicing predicted. Details ▾Hide ▴
Evidence considered
- Missense variant at aa 1484
- outside RING (2-101)
- coiled-coil (1391-1424)
- and BRCT (1650-1857) domains.
- SpliceAI max delta 0.03 ≤0.1
- no splicing predicted.
Sources
Not met · 14 · evaluated, threshold not reached
PS1 No previously classified pathogenic missense variant with the same amino acid change (p.Ser1484Ala) exists in the ENIGMA reference set. The only variant at this residue in ENIGMA tables is c.4450T>A (p.Ser1484Thr), which has BS3 (benign) in Table9 and 'No functional impact' in ST4. PS1 requires a pathogenic or likely pathogenic comparator at the same residue with the same predicted effect; none is available. Details ▾Hide ▴
Evidence considered
- c.4450T>A (S1484T) has BS3_Strong and No functional impact in ENIGMA tables
- no pathogenic S1484A comparator exists.
- SpliceAI max delta 0.03 (≤0.1) satisfies the no-splicing requirement for missense PS1
- but the comparator requirement is unmet.
Still missing
- No known pathogenic or likely pathogenic variant with the same amino acid change (S1484A) at this residue.
Sources
PS3 This variant is not listed in ENIGMA Table9 (curated functional assay results) for PS3. It is not present in ST4 (full functional assay results dataset). Exploratory search found no published functional studies demonstrating a damaging effect for p.Ser1484Ala specifically. The related variant c.4450T>A (p.Ser1484Thr) has BS3_Strong ('No functional impact'), but this pertains to a different amino acid substitution and does not constitute evidence for this variant. Details ▾Hide ▴
Evidence considered
- Absent from ENIGMA Table9 and ST4 for c.4450T>G.
- c.4450T>A (S1484T) has BS3
- not PS3 — a different amino acid change.
Still missing
- No calibrated functional assay data available for p.Ser1484Ala.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18
PS4 No case-control study demonstrates significantly increased prevalence of c.4450T>G in affected individuals versus controls. The variant is absent from gnomAD, making population-based odds ratio calculation infeasible. ENIGMA requires OR ≥4 (lower CI excludes 2.0) with p≤0.05 from a study of independent probands; no such study was identified. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1 and v4.1.
- ClinVar classification: Uncertain significance (3 clinical labs)
- no case-control data submitted.
Still missing
- No case-control study or cohort analysis with odds ratio for this variant.
Sources
PP1 No co-segregation data are available for this variant. No published pedigrees or segregation analyses document co-segregation of c.4450T>G with disease in multiple affected family members. ENIGMA requires a quantitative co-segregation analysis with LR ≥2.08 for PP1. Details ▾Hide ▴
Evidence considered
- ClinVar contains no structured segregation data for this variant.
- No published segregation analysis identified.
Still missing
- No co-segregation data in affected families.
Sources
PP3 ENIGMA PP3 for missense variants applies only to variants inside a clinically important functional domain with BayesDel ≥0.28. The variant p.Ser1484Ala is at amino acid position 1484, which lies outside all ENIGMA-defined clinically important functional domains (RING aa 2-101, coiled-coil aa 1391-1424, BRCT aa 1650-1857). BayesDel score is -0.315 (below the 0.28 threshold). SpliceAI max delta is 0.03 (below the 0.2 splicing-based PP3 threshold). Neither path to PP3 is satisfied. Details ▾Hide ▴
Evidence considered
- aa 1484 is outside all ENIGMA functional domains.
- BayesDel -0.315 <0.28.
- SpliceAI max delta 0.03 <0.2.
- REVEL 0.15.
Sources
PP4 This variant (c.4450T>G) is not listed in the Li et al. 2020 (PMID:31853058) BRCA1 clinical-history likelihood-ratio table. The related variant c.4450T>A (p.Ser1484Thr) is present with LR=1.066 (N_Probands=1), which falls in the neutral zone (>0.48 and <2.08) and would not qualify for PP4 or BP5. No multifactorial likelihood data supporting pathogenicity were identified for c.4450T>G in any ENIGMA resource. Details ▾Hide ▴
Evidence considered
- c.4450T>G not listed in Li 2020 clinical history LR table.
- c.4450T>A listed with LR=1.066 (neutral) but is a different amino acid change.
Still missing
- No variant-specific clinical history likelihood ratio available.
Sources
vcep_pmid_31853058_brca1_clinical_history_lrvcep_humu_40_1557_s00131853058
BA1 The variant is absent from gnomAD v2.1 and v4.1. ENIGMA BA1 requires filter allele frequency (FAF) >0.1% (FAF >0.001) in gnomAD non-cancer, non-founder populations. Absence does not meet this threshold. Details ▾Hide ▴
BS1 The variant is absent from gnomAD v2.1 and v4.1. ENIGMA BS1_Strong requires FAF >0.01% (>0.0001) and BS1_Supporting requires FAF >0.002% (>0.00002). Absence from population databases does not satisfy either threshold. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1 and v4.1
- FAF not above any ENIGMA BS1 threshold.
Sources
BS2 No evidence was identified documenting observation of this variant in healthy adults without features of Fanconi Anemia (FA) in sufficient numbers to meet ENIGMA BS2 point thresholds (≥1 point for BS2_Supporting, ≥2 for Moderate, ≥4 for Strong). Absent from gnomAD population databases, which precludes inference from population homozygote counts. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD
- no homozygous observations.
- No published reports of this variant in healthy adults without FA phenotype.
Still missing
- No observations in healthy adults to support BS2.
Sources
BS3 This variant (c.4450T>G, p.Ser1484Ala) is not listed in ENIGMA Table9 for BS3 and is not present in ST4 (full functional assay dataset). The related variant c.4450T>A (p.Ser1484Thr) has BS3_Strong with 'No functional impact' in Table9 and ST4, but this is a different amino acid substitution (Thr vs Ala) and does not constitute evidence for p.Ser1484Ala. No published functional studies demonstrate a benign effect for this specific variant. Details ▾Hide ▴
Evidence considered
- Absent from ENIGMA Table9 and ST4 for c.4450T>G.
- c.4450T>A (S1484T) has BS3_Strong but is a different amino acid change.
Still missing
- No calibrated functional assay data for p.Ser1484Ala
- c.4450T>A functional data cannot be extrapolated.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18
BS4 No lack-of-segregation data are available for this variant. No published pedigrees document non-segregation of c.4450T>G with disease in affected family members. ENIGMA requires quantitative co-segregation analysis with LR ≤0.48 for BS4_Supporting. Details ▾Hide ▴
Evidence considered
- No lack-of-segregation data in ClinVar or published literature.
Still missing
- No non-segregation data in affected families.
Sources
BP4 ENIGMA BP4 for missense variants applies only to variants inside a clinically important functional domain with BayesDel ≤0.15 AND SpliceAI ≤0.1. This variant is at aa 1484, outside all ENIGMA functional domains (RING 2-101, coiled-coil 1391-1424, BRCT 1650-1857). Under the ENIGMA Figure 1A flowchart, missense variants outside functional domains are routed through BP1 rather than BP4. BP4 does not apply here. Details ▾Hide ▴
Evidence considered
- aa 1484 is outside all ENIGMA functional domains
- ENIGMA BP4 for missense requires the variant to be inside a domain.
- BayesDel -0.315
- SpliceAI 0.03.
Sources
BP5 This variant (c.4450T>G) is not listed in the Li et al. 2020 (PMID:31853058) BRCA1 clinical-history likelihood-ratio table. The related variant c.4450T>A (p.Ser1484Thr) has LR=1.066 (N_Probands=1), which falls in the neutral zone and would not qualify for BP5. No multifactorial likelihood data supporting benignity were identified for c.4450T>G. Details ▾Hide ▴
Evidence considered
- c.4450T>G not listed in Li 2020 clinical history LR table.
- c.4450T>A listed with LR=1.066 (neutral).
Still missing
- No variant-specific clinical history LR available for benign direction.
Sources
vcep_pmid_31853058_brca1_clinical_history_lrvcep_humu_40_1557_s00131853058
BP7 ENIGMA BP7_Strong (RNA) requires well-established mRNA assay data showing no splicing aberration. This variant has not been assessed in any mRNA transcript analysis; it is absent from ENIGMA ST3 (splicing references). SpliceAI alone (max delta 0.03) is predictive but does not substitute for experimental mRNA evidence required for BP7. BP7_Supporting applies only to silent or intronic variants and is not applicable to this missense variant. Details ▾Hide ▴
Evidence considered
- No mRNA splicing assay data available
- absent from ST3 splicing references.
- SpliceAI 0.03 predicts no splicing impact but is insufficient for BP7 without experimental confirmation.
Still missing
- No mRNA transcript analysis data for this variant.
Sources
Not applicable · 10· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/APVS1 applies only to null variants (nonsense, frameshift, canonical ±1,2 splice site, initiation codon, exon deletion) per ENIGMA BRCA1 specification v1.2. This variant is a missense substitution (c.4450T>G, p.Ser1484Ala) and does not qualify. Details ▾Hide ▴
Evidence considered
- Missense variant
- ENIGMA PVS1 flowchart does not apply to substitutions that are not null variants.
Sources
cspec ↗pvs1_variant_assessment
PS2 VCEPPS2 (de novo) is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. De novo assessment for BRCA1 is not part of the ENIGMA framework. Details ▾Hide ▴
PM1 VCEPPM1 is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. ENIGMA captures domain-level evidence through other criteria (PP3/BP4 for variants inside functional domains, BP1 for variants outside). Details ▾Hide ▴
PM5 N/AENIGMA repurposes PM5 for protein termination codon (PTC) variants in exons where a different proven pathogenic PTC variant has been observed. This is a missense variant (p.Ser1484Ala), not a PTC. PM5 classic same-residue missense comparison is not used under ENIGMA. Details ▾Hide ▴
Evidence considered
- Missense variant
- ENIGMA PM5 applies only to PTC variants.
Sources
cspec ↗pm5_candidates
PM6 VCEPPM6 (de novo) is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. Details ▾Hide ▴
PP2 VCEPPP2 is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. Details ▾Hide ▴
PP5 VCEPPP5 is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. Reputable source classification is not used as a standalone criterion in the ENIGMA framework. Details ▾Hide ▴
BP2 VCEPBP2 is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. Details ▾Hide ▴
BP6 VCEPBP6 is listed as Not Applicable in the ENIGMA BRCA1 specification v1.2. Details ▾Hide ▴
PS5 N/APS5 is not defined in the ENIGMA BRCA1 specification v1.2 criteria set. This criterion is not used in the ENIGMA framework. Details ▾Hide ▴
Identifiers
- Gene
- BRCA1
- Transcript
- NM_007294.4
- Coding (HGVS c.)
- NM_007294.4:c.4450T>G
- Protein (HGVS p.)
- NP_009225.1:p.(Ser1484Ala)
- GRCh38
- chr17:43076522 A>C
- GRCh37
- chr17:41228539 A>C
- ClinVar
- 2834642, 851302, 630099, 619629
Gene diagram
Every interpreted variant in BRCA1, mapped onto the exon structure of NM_007294.4. Select a row to find it on the plot.
BRCA1NM_007294.4
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
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
- 0.150
- BayesDel
- -0.315
How the predictions were used
PP3 ENIGMA PP3 for missense variants applies only to variants inside a clinically important functional domain with BayesDel ≥0.28. The variant p.Ser1484Ala is at amino acid position 1484, which lies outside all ENIGMA-defined clinically important functional domains (RING aa 2-101, coiled-coil aa 1391-1424, BRCT aa 1650-1857). BayesDel score is -0.315 (below the 0.28 threshold). SpliceAI max delta is 0.03 (below the 0.2 splicing-based PP3 threshold). Neither path to PP3 is satisfied. Details ▾Hide ▴
Evidence considered
- aa 1484 is outside all ENIGMA functional domains.
- BayesDel -0.315 <0.28.
- SpliceAI max delta 0.03 <0.2.
- REVEL 0.15.
Sources
BP4 ENIGMA BP4 for missense variants applies only to variants inside a clinically important functional domain with BayesDel ≤0.15 AND SpliceAI ≤0.1. This variant is at aa 1484, outside all ENIGMA functional domains (RING 2-101, coiled-coil 1391-1424, BRCT 1650-1857). Under the ENIGMA Figure 1A flowchart, missense variants outside functional domains are routed through BP1 rather than BP4. BP4 does not apply here. Details ▾Hide ▴
Evidence considered
- aa 1484 is outside all ENIGMA functional domains
- ENIGMA BP4 for missense requires the variant to be inside a domain.
- BayesDel -0.315
- SpliceAI 0.03.
Sources
BP7 ENIGMA BP7_Strong (RNA) requires well-established mRNA assay data showing no splicing aberration. This variant has not been assessed in any mRNA transcript analysis; it is absent from ENIGMA ST3 (splicing references). SpliceAI alone (max delta 0.03) is predictive but does not substitute for experimental mRNA evidence required for BP7. BP7_Supporting applies only to silent or intronic variants and is not applicable to this missense variant. Details ▾Hide ▴
Evidence considered
- No mRNA splicing assay data available
- absent from ST3 splicing references.
- SpliceAI 0.03 predicts no splicing impact but is insufficient for BP7 without experimental confirmation.
Still missing
- No mRNA transcript analysis data for this variant.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03). REVEL score = 0.15. BayesDel score = -0.314566.
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.
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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 12692171 ↗American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.American Society of Clinical Oncology · 2003No 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 17392385 ↗American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.Saslow D et al. · 2007No paper-specific finding is recorded.
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PMID 17508274 ↗Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.Berliner JL et al. · 2007No paper-specific finding is recorded.
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PMID 18163131 ↗The emerging landscape of breast cancer susceptibility.Stratton MR et al. · 2008No paper-specific finding is recorded.
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PMID 19305347 ↗ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome.2009No 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 0.030
Open source ↗
ClinVar
3 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/1530970787
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/630099/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/17-41228539-A-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr17-43076522-A-C?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_007294.4%3Ac.4450…
- OncoKB ↗www.oncokb.org/gene/BRCA1/S1484A
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BRCA1+c.4450T%3EG
- 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 (3 clinical laboratories). (ClinVarID = 630099)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03). REVEL score = 0.15. BayesDel score = -0.314566.
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.