About BRCA2
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA2 c.8149G>T, p.(Ala2717Ser)
Classification
Benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.
Benign.A 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 BRCA2 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: 0
Benign evidence criteria: 4
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 4
BA1Stand alone
BA1 · stand alone
This variant is common in population databases. The gnomAD v2.1 group-maximum filter allele frequency is 0.00162114 and the gnomAD v4.1 group-maximum filter allele frequency is 0.00163682, both above the ENIGMA BA1 threshold of 0.001, so BA1 is met.
BS1Strong
BS1 · strong
This variant exceeds the ENIGMA BS1 threshold for benign population frequency. The gnomAD v2.1 group-maximum filter allele frequency is 0.00162114 and the gnomAD v4.1 group-maximum filter allele frequency is 0.00163682, both above the BS1 strong threshold of 0.0001.
BS3Strong
BS3 · strong
ENIGMA Table 9 assigns BS3 Strong to this variant. Three calibrated studies reported protein function similar to benign control variants, and the listed RNA result showed no aberration, which supports a benign functional interpretation.
BP6Supporting
BP6 · supporting
Expert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Benign.
Recorded classification: Benign
ENIGMA BRCA1 and BRCA2 Specification v1.2 final-classification framework (Table 3 override from the official CSPEC/VCEP ruleset).
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
2,248 / 1,614,110 alleles
gnomAD v4.1: 2,248 / 1,614,110 alleles. Recorded AF 0.00139272. Recorded homozygote count 2.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00111433; MAF= 0.11143%, 315/282680 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 0.00207814; MAF= 0.20781%, 15/7218 alleles, homozygotes = 0); grpmax FAF= 0.00162114.
No screenshot for this evidence
Computational predictions
Not recorded
No SpliceAI or REVEL score is recorded in the fields used for this tile.
No listed criterion applied
ClinVar submissions
Not recorded
A ClinVar laboratory submission summary was not recorded.
Functional evidence
Statement recorded
OncoKB classifies this variant as Likely Neutral; biological effect: Likely Neutral.
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 BRCA2 VCEP v1.2.0, with the data and sources behind each one.
28 criteria with recorded statuses: 4 met · 3 not met · 10 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 BRCA2 c.8149G>T (p.Ala2717Ser) variant has been observed in somatic cancers in COSMIC (COSV66460731, n=3) and has also been reported in ClinVar, where the ClinGen ENIGMA BRCA1/2 expert panel classifies it as benign.
This variant is common in population databases, with gnomAD v2.1 group-maximum filter allele frequency 0.00162114 and gnomAD v4.1 group-maximum filter allele frequency 0.00163682, both above the ENIGMA BA1 threshold of 0.001.
Calibrated BRCA2 functional evidence supports a benign effect: ENIGMA Table 9 assigns BS3 Strong based on three studies showing function similar to benign controls, with no aberrant RNA result listed.
SpliceAI predicts no significant splice effect for this variant, with a maximum delta score of 0.03, which argues against splice disruption.
No criteria match.
Met · 4
BA1 Stand aloneThis variant is common in population databases. The gnomAD v2.1 group-maximum filter allele frequency is 0.00162114 and the gnomAD v4.1 group-maximum filter allele frequency is 0.00163682, both above the ENIGMA BA1 threshold of 0.001, so BA1 is met. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BA1 is met when FAF >0.001 in a non-founder population.
Evidence considered
- gnomAD v2.1 grpmax FAF 0.00162114
- gnomAD v4.1 grpmax FAF 0.00163682
Sources
BS1 StrongThis variant exceeds the ENIGMA BS1 threshold for benign population frequency. The gnomAD v2.1 group-maximum filter allele frequency is 0.00162114 and the gnomAD v4.1 group-maximum filter allele frequency is 0.00163682, both above the BS1 strong threshold of 0.0001. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BS1_Strong is met when FAF >0.0001 in a non-founder population.
Evidence considered
- gnomAD v2.1 grpmax FAF 0.00162114
- gnomAD v4.1 grpmax FAF 0.00163682
Sources
BS3 StrongENIGMA Table 9 assigns BS3 Strong to this variant. Three calibrated studies reported protein function similar to benign control variants, and the listed RNA result showed no aberration, which supports a benign functional interpretation. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BS3 applies when well-established functional studies show no damaging effect on protein function.
Evidence considered
- Table 9 row for c.8149G>T / p.(Ala2717Ser): BS3 Strong
- Mesman 2019 complementation/HDR result listed as benign-like
- Richardson 2021 listed as Neutral
- Ikegami 2020 listed as fClass 1 or 2
- RNA note: no aberration
Sources
vcep_specifications_table9_v1_2_2024_11_18cspec ↗
BP6 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Benign. Details ▾Hide ▴
Not met · 3 · evaluated, threshold not reached
PS3 Available calibrated functional evidence does not support a damaging effect. ENIGMA Table 9 lists this variant under BS3 Strong, with three studies showing protein function similar to benign controls and no aberrant RNA result, so PS3 is not met. Details ▾Hide ▴
Rule
PS3 requires well-established functional studies showing a damaging effect.
Evidence considered
- ENIGMA Table 9 entry for c.8149G>T / p.(Ala2717Ser): BS3 Strong
- Three calibrated studies reported neutral/benign-like function
- RNA note: no aberration
Sources
vcep_specifications_table9_v1_2_2024_11_18cspec ↗
PM2 This variant is not absent from population databases. In gnomAD v2.1 the allele frequency is 0.00111433 (315/282680) and in gnomAD v4.1 it is 0.00139272 (2248/1614110), so the ENIGMA PM2 absence criterion is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PM2_Supporting requires absence from gnomAD non-cancer controls with adequate coverage.
Evidence considered
- gnomAD v2.1 AF 0.00111433
- gnomAD v4.1 AF 0.00139272
Sources
BP1 This missense variant lies within the BRCA2 DNA-binding region (amino acids 2481-3186). ENIGMA BP1_Strong applies only to missense or in-frame variants outside clinically important domains with no splice impact predicted, so BP1 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP1_Strong applies to silent, missense, or in-frame variants outside clinically important domains with SpliceAI ≤0.1.
Evidence considered
- Protein position Ala2717 is within BRCA2 DNA binding aa 2481-3186
- SpliceAI max delta score 0.03
Sources
Not assessed · 10 · no assessment recorded
PS1 No established pathogenic or likely pathogenic comparison variant producing the same amino acid change or the same proven splice effect was identified here, so PS1 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PS1 requires the same amino acid change or same proven splice effect as a classified pathogenic/likely pathogenic variant.
Evidence considered
- PS1 requires a previously classified pathogenic or likely pathogenic reference variant with the same protein or splice consequence
Still missing
- No same-amino-acid pathogenic/likely pathogenic comparator was established.
Sources
PS4 This variant has been reported in affected individuals, but no case-control analysis with p-value ≤0.05 and odds ratio ≥4 was established here, so PS4 was not assessed. Details ▾Hide ▴
PM3 No evidence was identified that this variant was observed in trans with another BRCA2 variant in an individual with BRCA2-related Fanconi anemia, so PM3 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PM3 requires qualifying in-trans observations in BRCA2-related Fanconi anemia.
Evidence considered
- PM3 in BRCA2 is reserved for recessive Fanconi anemia contexts
Still missing
- No BRCA2-related Fanconi anemia phase/phenotype data were identified.
Sources
PP1 No quantitative segregation likelihood ratio meeting ENIGMA thresholds was identified, so PP1 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PP1 requires a segregation likelihood ratio of at least 2.08, 4.3, 18.7, or 350 depending on strength.
Evidence considered
- PP1 in BRCA2 requires quantitative segregation analysis
Still missing
- No segregation likelihood ratio data were established.
Sources
PP3 SpliceAI predicts no significant splice effect for this variant, with a maximum delta score of 0.03, which is below the PP3 splice threshold of 0.2. However, ENIGMA PP3 for an in-domain missense variant also requires a BayesDel no-AF score of at least 0.30, and that protein-prediction value was not established here, so PP3 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PP3 requires SpliceAI ≥0.2 for splice prediction or BayesDel no-AF ≥0.30 for in-domain missense/in-frame variants.
Evidence considered
- SpliceAI max delta score 0.03
- Variant lies in the BRCA2 DNA-binding region covered by in-domain missense rules
Still missing
- No BayesDel no-AF score was established for this in-domain missense variant.
Sources
PP4 No qualifying BRCA2 clinical-history likelihood ratio was identified for this variant, so PP4 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PP4 uses multifactorial clinical-history likelihood ratios, with Supporting at LR ≥2.08 and higher strengths at larger LR values.
Evidence considered
- Clinical-history LR workbook reviewed with no matching variant-level entry
Still missing
- No variant-level clinical-history LR meeting PP4 thresholds was identified.
Sources
BS2 No qualifying observations in individuals lacking Fanconi anemia features were identified under the ENIGMA BRCA2 BS2 point-based framework, so BS2 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BS2 requires qualifying point-based evidence in the absence of recessive disease features.
Evidence considered
- BS2 in BRCA2 uses a Fanconi anemia-based point framework
Still missing
- No BS2 point-based phenotype/co-observation data were identified.
Sources
BS4 No quantitative lack-of-segregation likelihood ratio meeting ENIGMA thresholds was established here, so BS4 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BS4 requires a segregation likelihood ratio of 0.48 or less, with stronger evidence at lower values.
Evidence considered
- BS4 in BRCA2 requires quantitative segregation analysis
Still missing
- No segregation LR at or below the BS4 thresholds was established.
Sources
BP4 SpliceAI predicts no significant splice effect, with a maximum delta score of 0.03, which is below the BP4 splice threshold of 0.1. However, ENIGMA BP4 for a missense variant inside a clinically important domain also requires a BayesDel no-AF score of 0.18 or less, and that protein-prediction value was not established here, so BP4 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP4 requires SpliceAI ≤0.1 and, for in-domain missense/in-frame variants, BayesDel no-AF ≤0.18.
Evidence considered
- SpliceAI max delta score 0.03
- Variant lies in the BRCA2 DNA-binding region covered by in-domain missense rules
Still missing
- No BayesDel no-AF score was established for this in-domain missense variant.
Sources
BP5 No qualifying BRCA2 clinical-history likelihood ratio at or below the ENIGMA BP5 thresholds was identified for this variant, so BP5 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP5 uses multifactorial clinical-history likelihood ratios, with Supporting at LR ≤0.48 and stronger evidence at lower LR values.
Evidence considered
- Clinical-history LR workbook reviewed with no matching variant-level entry
Still missing
- No variant-level clinical-history LR meeting BP5 thresholds was identified.
Sources
Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense variant, not a nonsense, frameshift, canonical ±1,2 splice, initiation codon, or deletion variant, and no damaging RNA-only result was identified. The ENIGMA BRCA2 PVS1 framework therefore does not apply. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PVS1 applies to qualifying loss-of-function or damaging RNA-only variants.
Evidence considered
- Missense protein change p.Ala2717Ser
- Generic PVS1 scaffold indicates the variant is outside null-variant buckets
Sources
PS2 N/AThe ENIGMA BRCA2 specification does not apply PS2 in this framework. Details ▾Hide ▴
Rule
PS2 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
PM1 N/AThe ENIGMA BRCA2 specification marks PM1 as not applicable in this framework. Details ▾Hide ▴
Rule
PM1 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
PM4 N/AThe ENIGMA BRCA2 specification marks PM4 as not applicable in this framework. Details ▾Hide ▴
Rule
PM4 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
PM5 N/AThe BRCA2 ENIGMA PM5 rule in this framework is for protein-truncating variants in eligible exons. This missense variant does not meet that use case, so PM5 is not applicable. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PM5 in this framework applies to qualifying protein-truncating variants.
Evidence considered
- Missense variant
- Table 4 guidance is for PTC-based PM5 use
Sources
cspec ↗vcep_specifications_table4_v1_2_2024_11_18
PM6 N/AThe ENIGMA BRCA2 specification marks PM6 as not applicable in this framework. Details ▾Hide ▴
Rule
PM6 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
PP2 N/AThe ENIGMA BRCA2 specification marks PP2 as not applicable in this framework. Details ▾Hide ▴
Rule
PP2 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
PP5 N/AThe ENIGMA BRCA2 specification marks PP5 as not applicable in this framework. Details ▾Hide ▴
Rule
PP5 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
BP2 N/AThe ENIGMA BRCA2 specification marks BP2 as not applicable in this framework. Details ▾Hide ▴
Rule
BP2 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
BP3 N/AThe ENIGMA BRCA2 specification marks BP3 as not applicable in this framework. Details ▾Hide ▴
Rule
BP3 not applicable in the ENIGMA BRCA2 specification.
Evidence considered
- Criterion listed as not applicable in the BRCA2 specification
Sources
BP7 N/AThis is a missense variant rather than a silent or qualifying intronic variant, so the ENIGMA BP7 rule does not apply. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP7 applies to qualifying silent or intronic variants, or RNA-only benign evidence in defined settings.
Evidence considered
- Missense variant p.Ala2717Ser
- SpliceAI max delta score 0.03
Sources
Identifiers
- Gene
- BRCA2
- Transcript
- NM_000059.4
- Coding (HGVS c.)
- NM_000059.4:c.8149G>T
- Protein (HGVS p.)
- NP_000050.3:p.(Ala2717Ser)
- GRCh38
- chr13:32363351 G>T
- GRCh37
- chr13:32937488 G>T
Gene diagram
Every interpreted variant in BRCA2, mapped onto the exon structure of NM_000059.4. Select a row to find it on the plot.
BRCA2NM_000059.4
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 BRCA2
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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
2,248 / 1,614,110 alleles
AF 0.00139 · 2 homozygotes · FAF 0.00164
gnomAD v2.1
315 / 282,680 alleles
AF 0.00111 · 0 homozygotes · FAF 0.00162
By genetic ancestry
gnomAD v4.1
AF 0.0014 · 2248 / 1,614,110 alleles · 2 hom · FAF 0.0016
| European (non-Finnish)2005 / 1,180,000 | 0.00172 hom |
| Admixed American77 / 60,014 | 0.0013 |
| Remaining individuals67 / 62,508 | 0.0011 |
| European (Finnish)65 / 64,022 | 0.001 |
| African/African American33 / 75,026 | 0.00044 |
| Ashkenazi Jewish1 / 29,604 | 3.4e-05 |
0 alternate alleles recorded in 4 other groups: Amish, East Asian, Middle Eastern, South Asian.
gnomAD v2.1
AF 0.0011 · 315 / 282,680 alleles · 0 hom · FAF 0.0016
| Remaining individuals15 / 7,218 | 0.0021 |
| European (non-Finnish)235 / 128,996 | 0.0018 |
| European (Finnish)25 / 25,124 | 0.001 |
| Admixed American32 / 35,440 | 0.0009 |
| African/African American7 / 24,970 | 0.00028 |
| Ashkenazi Jewish1 / 10,364 | 9.6e-05 |
0 alternate alleles recorded in 2 other groups: East Asian, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.00139272; MAF= 0.13927%, 2248/1614110 alleles, homozygotes = 2) and has highest observed frequency in the European (non-Finnish) population (AF= 0.00169915; MAF= 0.16992%, 2005/1180000 alleles, homozygotes = 2); grpmax FAF= 0.00163682.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00111433; MAF= 0.11143%, 315/282680 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 0.00207814; MAF= 0.20781%, 15/7218 alleles, homozygotes = 0); grpmax FAF= 0.00162114.
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 SpliceAI predicts no significant splice effect for this variant, with a maximum delta score of 0.03, which is below the PP3 splice threshold of 0.2. However, ENIGMA PP3 for an in-domain missense variant also requires a BayesDel no-AF score of at least 0.30, and that protein-prediction value was not established here, so PP3 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PP3 requires SpliceAI ≥0.2 for splice prediction or BayesDel no-AF ≥0.30 for in-domain missense/in-frame variants.
Evidence considered
- SpliceAI max delta score 0.03
- Variant lies in the BRCA2 DNA-binding region covered by in-domain missense rules
Still missing
- No BayesDel no-AF score was established for this in-domain missense variant.
Sources
BP4 SpliceAI predicts no significant splice effect, with a maximum delta score of 0.03, which is below the BP4 splice threshold of 0.1. However, ENIGMA BP4 for a missense variant inside a clinically important domain also requires a BayesDel no-AF score of 0.18 or less, and that protein-prediction value was not established here, so BP4 was not assessed. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP4 requires SpliceAI ≤0.1 and, for in-domain missense/in-frame variants, BayesDel no-AF ≤0.18.
Evidence considered
- SpliceAI max delta score 0.03
- Variant lies in the BRCA2 DNA-binding region covered by in-domain missense rules
Still missing
- No BayesDel no-AF score was established for this in-domain missense variant.
Sources
BP7 N/AThis is a missense variant rather than a silent or qualifying intronic variant, so the ENIGMA BP7 rule does not apply. Details ▾Hide ▴
Rule
ENIGMA BRCA2 BP7 applies to qualifying silent or intronic variants, or RNA-only benign evidence in defined settings.
Evidence considered
- Missense variant p.Ala2717Ser
- SpliceAI max delta score 0.03
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
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
2,248 / 1,614,110 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/1535438831
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/41564/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/13-32937488-G-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr13-32363351-G-T?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000059.4%3Ac.8149…
- OncoKB ↗www.oncokb.org/gene/BRCA2/A2717S
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=123627240
- 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= 0.00139272; MAF= 0.13927%, 2248/1614110 alleles, homozygotes = 2) and has highest observed frequency in the European (non-Finnish) population (AF= 0.00169915; MAF= 0.16992%, 2005/1180000 alleles, homozygotes = 2); grpmax FAF= 0.00163682.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00111433; MAF= 0.11143%, 315/282680 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 0.00207814; MAF= 0.20781%, 15/7218 alleles, homozygotes = 0); grpmax FAF= 0.00162114.
ClinVar
This variant has been reported in ClinVar as Benign (22 clinical laboratories) and as Likely benign (11 clinical laboratories) and as Uncertain significance (2 clinical laboratories) and as Likely Benign (1 clinical laboratory) and as Benign by ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen (expert panel).
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
Functional
OncoKB classifies this variant as Likely Neutral; biological effect: Likely Neutral.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV66460731, n = 3 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.