About BRCA2
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA2 c.8168A>C, p.(Asp2723Ala)
Classification
Likely pathogenic
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely pathogenic. Select a step to read what it means.
Likely pathogenic.A likely pathogenic 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: 3
Benign evidence criteria: 0
Pathogenic criteria applied · 3
PS3Strong
PS3 · strong
Calibrated functional studies summarized by the ENIGMA BRCA2 specification show that this variant has damaging protein function consistent with pathogenic control variants, and the curated ENIGMA functional table assigns PS3 at Strong strength.
PP3Supporting
PP3 · supporting
This missense variant lies within the BRCA2 DNA-binding domain, a clinically important functional domain (aa 2481-3186), and the BayesDel no-AF score is 0.575545, which is above the ENIGMA PP3 threshold of 0.30. SpliceAI predicts no splice effect (max delta score 0.00), so the supporting computational evidence is for protein impact rather than splicing.
PP5Supporting
PP5 · supporting
Expert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Pathogenic.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Likely pathogenic
ENIGMA BRCA1 and BRCA2 Specification v1.2.0 final-classification framework (Table 3 criteria-combination rules via final_classification_framework).
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
6 / 1,614,162 alleles
gnomAD v4.1: 6 / 1,614,162 alleles. Recorded AF 3.7171e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98251e-06; MAF= 0.00040%, 1/251098 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.81865e-06; MAF= 0.00088%, 1/113396 alleles, homozygotes = 0).
No listed criterion applied
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 classifies this variant as Likely Oncogenic; biological effect: Loss-of-function.
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: 3 met · 9 not met · 5 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.8168A>C (p.Asp2723Ala; p.D2723A) variant has been reported in ClinVar as pathogenic by the ClinGen ENIGMA BRCA1/2 expert panel and is listed by OncoKB as likely oncogenic.
This variant is present at very low frequency in population databases, with 1/251098 alleles in gnomAD v2.1 and 6/1614162 alleles in gnomAD v4.1, which is too low to support benign frequency criteria but means PM2 is not met because the variant is not absent from controls.
Calibrated BRCA2 functional evidence supports a damaging effect, and the ENIGMA curated functional table assigns PS3 at Strong strength for p.Asp2723Ala.
This missense change occurs within the BRCA2 DNA-binding domain, SpliceAI predicts no splice disruption with a max delta score of 0.00, and the computational profile supports PP3 rather than BP4.
No criteria match.
Met · 3
PS3 StrongCalibrated functional studies summarized by the ENIGMA BRCA2 specification show that this variant has damaging protein function consistent with pathogenic control variants, and the curated ENIGMA functional table assigns PS3 at Strong strength. Details ▾Hide ▴
Rule
Apply PS3 when well-established functional studies support a damaging effect; use ENIGMA Table 9 for calibrated BRCA2 assay assignments.
Evidence considered
- Specifications Table 9 entry: BRCA2 c.8168A>C p.(Asp2723Ala) -> PS3 Strong.
- Table 9 summary states the variant was reported by two calibrated studies to exhibit protein function similar to pathogenic control variants.
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
PP3 SupportingThis missense variant lies within the BRCA2 DNA-binding domain, a clinically important functional domain (aa 2481-3186), and the BayesDel no-AF score is 0.575545, which is above the ENIGMA PP3 threshold of 0.30. SpliceAI predicts no splice effect (max delta score 0.00), so the supporting computational evidence is for protein impact rather than splicing. Details ▾Hide ▴
Rule
For BRCA2, PP3 applies to missense variants inside a clinically important functional domain with BayesDel no-AF >= 0.30.
Evidence considered
- Protein change: p.(Asp2723Ala)
- located within BRCA2 DNA-binding domain aa 2481-3186.
- BayesDel no-AF score: 0.575545.
- SpliceAI max delta score: 0.00.
Sources
PP5 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Pathogenic. Details ▾Hide ▴
Not met · 9 · evaluated, threshold not reached
PS1 No previously classified pathogenic or likely pathogenic variant producing the same amino acid change was identified. Other pathogenic missense changes have been reported at codon Asp2723, but different amino acid substitutions at the same codon do not satisfy PS1. Details ▾Hide ▴
Rule
PS1 requires the same amino acid change as an established pathogenic/likely pathogenic reference variant.
Evidence considered
- Variant under review: p.(Asp2723Ala).
- Reference-set entries were identified for p.(Asp2723His) and p.(Asp2723Gly)
- not p.(Asp2723Ala).
Sources
cspec ↗vcep_supplementarytables_v1_2_2024_11_18
PM2 This variant is not absent from population databases. It is present in gnomAD v2.1 at 1/251098 alleles (AF 3.98e-06) and in gnomAD v4.1 at 6/1614162 alleles (AF 3.72e-06), so the ENIGMA requirement for absence from controls is not met. Details ▾Hide ▴
Rule
PM2_Supporting requires absence from gnomAD controls with adequate coverage.
Evidence considered
- gnomAD v2.1: 1/251098 alleles
- AF 3.9825e-06
- 0 homozygotes.
- gnomAD v4.1: 6/1614162 alleles
- AF 3.7171e-06
Sources
PP4 Variant-specific clinical-history evidence falls in the neutral zone. The BRCA2 clinical-history likelihood ratio is 1.329 with 2 probands, which is below the ENIGMA PP4 threshold of 2.08 and above the BP5 threshold range, so PP4 is not met. Details ▾Hide ▴
Rule
PP4 in BRCA2 uses multifactorial clinical-history LR thresholds.
Evidence considered
- Clinical-history LR: 1.32919317721118.
- N probands: 2.
- PP4 threshold: LR >= 2.08.
Sources
BA1 The population frequency is far below the ENIGMA BA1 threshold. In gnomAD v4.1 the highest filter allele frequency is 1.83e-06, which is below the BA1 cutoff of 0.001, so BA1 is not met. Details ▾Hide ▴
Rule
BA1 requires filter allele frequency above 0.1% in an appropriate non-founder population.
Evidence considered
- gnomAD v4.1 grpmax FAF: 1.83e-06.
- BA1 threshold: FAF > 0.001.
Sources
BS1 The population frequency does not reach the ENIGMA BS1 threshold. In gnomAD v4.1 the highest filter allele frequency is 1.83e-06, which is below the BS1_Supporting cutoff of 2.0e-05 and below the BS1 cutoff of 1.0e-04. Details ▾Hide ▴
Rule
BS1 requires filter allele frequency above ENIGMA benign thresholds.
Evidence considered
- gnomAD v4.1 grpmax FAF: 1.83e-06.
- BS1_Supporting threshold: FAF > 2.0e-05.
- BS1 threshold: FAF > 1.0e-04.
Sources
BS3 Available functional evidence does not support a benign effect. The curated ENIGMA functional table assigns PS3 Strong rather than BS3 for this variant. Details ▾Hide ▴
Rule
BS3 requires well-established functional studies showing no damaging effect.
Evidence considered
- Specifications Table 9 entry assigns PS3 Strong for c.8168A>C p.(Asp2723Ala).
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
BP1 This missense variant is located within the BRCA2 DNA-binding domain, whereas BRCA2 BP1_Strong is reserved for missense or silent variants outside a clinically important functional domain with no splice effect. Although SpliceAI is 0.00, the domain requirement for BP1 is not met. Details ▾Hide ▴
Rule
BRCA2 BP1_Strong requires location outside a clinically important functional domain and no predicted splice impact.
Evidence considered
- Protein position 2723 lies within BRCA2 DNA-binding domain aa 2481-3186.
- SpliceAI max delta score: 0.00.
Sources
BP4 Although SpliceAI predicts no splice effect (max delta score 0.00), BP4 is not met because this missense variant is in a clinically important functional domain and the BayesDel no-AF score is 0.575545, which is above the ENIGMA benign threshold of 0.18 rather than at or below it. Details ▾Hide ▴
Rule
For BRCA2 missense variants in a clinically important domain, BP4 requires BayesDel no-AF <= 0.18 and SpliceAI <= 0.1.
Evidence considered
- Protein position 2723 lies within BRCA2 DNA-binding domain aa 2481-3186.
- BayesDel no-AF score: 0.575545.
- BP4 BayesDel threshold: <= 0.18.
- SpliceAI max delta score: 0.00.
Sources
BP5 Variant-specific clinical-history evidence does not support a benign multifactorial signal. The BRCA2 clinical-history likelihood ratio is 1.329 with 2 probands, which is above the BP5 threshold of 0.48, so BP5 is not met. Details ▾Hide ▴
Rule
BP5 in BRCA2 uses multifactorial clinical-history LR thresholds.
Evidence considered
- Clinical-history LR: 1.32919317721118.
- N probands: 2.
- BP5 threshold: LR <= 0.48.
Sources
Not assessed · 5 · no assessment recorded
PS4 No qualifying variant-specific case-control study or odds ratio meeting ENIGMA PS4 thresholds was identified. The available structured BRCA2 supplementary datasets reviewed here did not provide a variant-specific PS4 assignment for this variant. Details ▾Hide ▴
Rule
PS4 requires significantly increased prevalence in affected individuals compared with controls under ENIGMA thresholds.
Evidence considered
- No exact c.8168A>C or p.(Asp2723Ala) match was found in the reviewed structured PS4-supporting tables.
Still missing
- No variant-specific case-control estimate meeting ENIGMA PS4 thresholds was identified.
Sources
PM3 No evidence was identified that this variant was observed in trans with another BRCA2 variant in an individual with a BRCA2-related Fanconi anemia phenotype, so PM3 could not be assessed. Details ▾Hide ▴
Rule
PM3 in BRCA2 is used for qualifying Fanconi anemia cases with co-occurring variants in the same gene.
Evidence considered
- ENIGMA BRCA2 PM3 is restricted to recessive Fanconi anemia context.
Still missing
- No BRCA2-related Fanconi anemia phenotype or in-trans co-occurrence data were identified.
Sources
PP1 No quantitative co-segregation likelihood ratio was identified, so PP1 could not be assessed. Details ▾Hide ▴
Rule
PP1 requires quantitative co-segregation evidence meeting ENIGMA LR thresholds.
Evidence considered
- No variant-specific segregation LR was retrieved for this review.
Still missing
- No family segregation likelihood ratio was identified.
Sources
BS2 No proband-level evidence was identified to assign BS2 points under the BRCA2 Fanconi anemia framework, so BS2 could not be assessed. Details ▾Hide ▴
Rule
BS2 in BRCA2 is based on a points framework tied to absence of recessive disease features.
Evidence considered
- ENIGMA BRCA2 BS2 requires qualifying observations in the absence of Fanconi anemia features.
Still missing
- No qualifying proband-level data for BS2 point assignment were identified.
Sources
BS4 No quantitative lack-of-segregation likelihood ratio was identified, so BS4 could not be assessed. Details ▾Hide ▴
Rule
BS4 requires quantitative lack-of-segregation evidence meeting ENIGMA LR thresholds.
Evidence considered
- No variant-specific BS4 likelihood ratio was retrieved for this review.
Still missing
- No family-based lack-of-segregation LR 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 splice-site, initiation-codon, or exon-deletion variant, so PVS1 does not apply. Details ▾Hide ▴
Rule
ENIGMA BRCA2 PVS1 applies to qualifying loss-of-function or RNA-loss variants, not to this missense substitution.
Evidence considered
- BRCA2 loss of function is an established disease mechanism in the ENIGMA framework.
- NM_000059.4:c.8168A>C causes p.(Asp2723Ala) and is not in a generic PVS1 null-variant category.
Sources
PS2 N/ADe novo evidence is not used for BRCA2 in this specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks PS2 as not applicable.
Sources
PM1 N/APM1 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks PM1 as not applicable.
Sources
PM4 N/APM4 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks PM4 as not applicable.
Sources
PM5 N/AIn this BRCA2 specification, PM5 is defined for protein-truncating variants in eligible exons and does not apply to this missense substitution. Details ▾Hide ▴
Rule
BRCA2 ENIGMA PM5 is reserved for qualifying protein-termination-codon variants.
Evidence considered
- Variant type: missense p.(Asp2723Ala).
- ENIGMA BRCA2 PM5 guidance is framed as PM5_PTC for truncating variants.
Sources
cspec ↗vcep_specifications_table4_v1_2_2024_11_18
PM6 N/AAssumed de novo evidence is not used for BRCA2 in this specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks PM6 as not applicable.
Sources
PP2 N/APP2 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks PP2 as not applicable.
Sources
BP2 N/ABP2 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks BP2 as not applicable.
Sources
BP3 N/ABP3 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks BP3 as not applicable.
Sources
BP6 N/ABP6 is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Criterion listed as not applicable in the BRCA2 ENIGMA specification.
Evidence considered
- ENIGMA BRCA2 specification marks BP6 as not applicable.
Sources
BP7 N/ABP7 is intended for silent or intronic variants and for specific RNA-only benign contexts. This is a missense variant in a clinically important functional domain with damaging protein-function evidence, so BP7 does not apply. Details ▾Hide ▴
Rule
BRCA2 BP7 is restricted to qualifying silent, intronic, or RNA-only benign scenarios.
Evidence considered
- Variant type: missense p.(Asp2723Ala).
- Curated functional evidence supports PS3 Strong
- not benign RNA-only evidence.
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
Identifiers
- Gene
- BRCA2
- Transcript
- NM_000059.4
- Coding (HGVS c.)
- NM_000059.4:c.8168A>C
- Protein (HGVS p.)
- NP_000050.3:p.(Asp2723Ala)
- GRCh38
- chr13:32363370 A>C
- GRCh37
- chr13:32937507 A>C
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
6 / 1,614,162 alleles
AF 3.72e-06 · 0 homozygotes · FAF 1.83e-06
gnomAD v2.1
1 / 251,098 alleles
AF 3.98e-06 · 0 homozygotes
By genetic ancestry
gnomAD v4.1
AF 3.7e-06 · 6 / 1,614,162 alleles · 0 hom · FAF 1.8e-06
| European (non-Finnish)6 / 1,180,024 | 5.1e-06 |
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 4e-06 · 1 / 251,098 alleles · 0 hom
| European (non-Finnish)1 / 113,396 | 8.8e-06 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 3.7171e-06; MAF= 0.00037%, 6/1614162 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.08464e-06; MAF= 0.00051%, 6/1180024 alleles, homozygotes = 0); grpmax FAF= 1.83e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98251e-06; MAF= 0.00040%, 1/251098 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.81865e-06; MAF= 0.00088%, 1/113396 alleles, homozygotes = 0).
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 SupportingThis missense variant lies within the BRCA2 DNA-binding domain, a clinically important functional domain (aa 2481-3186), and the BayesDel no-AF score is 0.575545, which is above the ENIGMA PP3 threshold of 0.30. SpliceAI predicts no splice effect (max delta score 0.00), so the supporting computational evidence is for protein impact rather than splicing. Details ▾Hide ▴
Rule
For BRCA2, PP3 applies to missense variants inside a clinically important functional domain with BayesDel no-AF >= 0.30.
Evidence considered
- Protein change: p.(Asp2723Ala)
- located within BRCA2 DNA-binding domain aa 2481-3186.
- BayesDel no-AF score: 0.575545.
- SpliceAI max delta score: 0.00.
Sources
BP4 Although SpliceAI predicts no splice effect (max delta score 0.00), BP4 is not met because this missense variant is in a clinically important functional domain and the BayesDel no-AF score is 0.575545, which is above the ENIGMA benign threshold of 0.18 rather than at or below it. Details ▾Hide ▴
Rule
For BRCA2 missense variants in a clinically important domain, BP4 requires BayesDel no-AF <= 0.18 and SpliceAI <= 0.1.
Evidence considered
- Protein position 2723 lies within BRCA2 DNA-binding domain aa 2481-3186.
- BayesDel no-AF score: 0.575545.
- BP4 BayesDel threshold: <= 0.18.
- SpliceAI max delta score: 0.00.
Sources
BP7 N/ABP7 is intended for silent or intronic variants and for specific RNA-only benign contexts. This is a missense variant in a clinically important functional domain with damaging protein-function evidence, so BP7 does not apply. Details ▾Hide ▴
Rule
BRCA2 BP7 is restricted to qualifying silent, intronic, or RNA-only benign scenarios.
Evidence considered
- Variant type: missense p.(Asp2723Ala).
- Curated functional evidence supports PS3 Strong
- not benign RNA-only evidence.
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.94. BayesDel score = 0.575545.
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
6 / 1,614,162 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/52516/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/13-32937507-A-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr13-32363370-A-C?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000059.4%3Ac.8168…
- OncoKB ↗www.oncokb.org/gene/BRCA2/D2723A
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BRCA2+c.8168A%3EC
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 3.7171e-06; MAF= 0.00037%, 6/1614162 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.08464e-06; MAF= 0.00051%, 6/1180024 alleles, homozygotes = 0); grpmax FAF= 1.83e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.98251e-06; MAF= 0.00040%, 1/251098 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.81865e-06; MAF= 0.00088%, 1/113396 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Likely pathogenic (4 clinical laboratories) and as Uncertain significance (1 clinical laboratory) and as Likely Pathogenic (1 clinical laboratory) and as Pathogenic (1 clinical laboratory) and as Pathogenic 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 = 0.00). REVEL score = 0.94. BayesDel score = 0.575545.
Functional
OncoKB classifies this variant as Likely Oncogenic; biological effect: Loss-of-function.
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.