About BRCA2
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA2 c.9117G>A, p.(Pro3039=)
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 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
PP3Supporting
PP3 · supporting
SpliceAI predicts a strong splice effect for this synonymous variant, with a maximum delta score of 0.89, which is above the BRCA2 ENIGMA PP3 threshold of 0.20 for predicted splicing impact. This supports PP3 at supporting strength.
PP4Supporting
PP4 · supporting
Clinical-history likelihood-ratio analysis for BRCA2 c.9117G>A showed LR 3.91 in 12 probands, which is above the ENIGMA PP4 supporting threshold of 2.08 and below the moderate threshold of 4.3. This supports PP4 at supporting strength.
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: Uncertain significance
Applied the official ClinGen ENIGMA BRCA1/2 Specification v1.2.0 final-classification framework using Table 3 criteria-combination rules (ACMG/AMP 2015 with ENIGMA Table 3 adaptations).
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 / 1,613,038 alleles
gnomAD v4.1: 6 / 1,613,038 alleles. Recorded AF 3.71969e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.02612e-06; MAF= 0.00040%, 1/248378 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.95576e-06; MAF= 0.00090%, 1/111660 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 oncogenicity for this specific variant: Unknown Oncogenic Effect (variant has not been individually curated).
No listed criterion applied
OncoKB ↗
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 · 8 not met · 8 not assessed · 9 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.9117G>A (p.(Pro3039=), p.(P3039=)) variant has been reported in ClinVar as pathogenic, including an expert-panel pathogenic classification from the ClinGen ENIGMA BRCA1/2 Variant Curation Expert Panel.
This variant is rare in population databases but is not absent from controls, with 1/248378 alleles in gnomAD v2.1 (AF 0.00000403) and 6/1613032 alleles in gnomAD v4.1 (AF 0.00000372), so PM2 is not met and BA1/BS1 thresholds are not reached.
Clinical-history likelihood-ratio analysis for BRCA2 c.9117G>A showed LR 3.91 in 12 probands, which exceeds the ENIGMA PP4 supporting threshold of 2.08 and supports PP4 at supporting strength.
SpliceAI predicts a strong splice effect for this synonymous variant, with a maximum delta score of 0.89, which is above the ENIGMA PP3 threshold of 0.20 for predicted splicing impact and argues against BP4/BP7.
No criteria match.
Met · 3
PP3 SupportingSpliceAI predicts a strong splice effect for this synonymous variant, with a maximum delta score of 0.89, which is above the BRCA2 ENIGMA PP3 threshold of 0.20 for predicted splicing impact. This supports PP3 at supporting strength. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP3 applies for silent, missense/in-frame, and relevant intronic variants when SpliceAI is at least 0.20.
Evidence considered
- SpliceAI DS_AL 0.82
- DS_DL 0.89
- max delta score 0.89.
- Variant is a synonymous substitution eligible for splice-prediction-based PP3 assessment.
Sources
PP4 SupportingClinical-history likelihood-ratio analysis for BRCA2 c.9117G>A showed LR 3.91 in 12 probands, which is above the ENIGMA PP4 supporting threshold of 2.08 and below the moderate threshold of 4.3. This supports PP4 at supporting strength. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP4 uses multifactorial clinical data with PP4 supporting at LR ≥2.08, moderate at ≥4.3, and strong at ≥18.7.
Evidence considered
- Li 2020 BRCA2 clinical-history table: HGVS_Nucleotide c.9117G>A
- N_Probands 12
- LR 3.910369863346765.
Sources
PP5 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Pathogenic. Details ▾Hide ▴
Not met · 8 · evaluated, threshold not reached
PVS1 This synonymous variant does not fall into the default null-variant categories for PVS1, and no direct mRNA assay evidence was identified here to show a proven loss-of-function transcript effect. Predicted splice impact alone does not satisfy BRCA2 PVS1 without supporting RNA data. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 VCEP PVS1 requires a null variant or mRNA-only functional evidence showing a damaging transcript effect at the appropriate strength.
Evidence considered
- BRCA2 is eligible for PVS1 in principle because loss of function is an established disease mechanism.
- The variant is a synonymous change
- not a nonsense
- frameshift
- or canonical ±1
- 2 splice variant.
- Splice prediction is available
- but no direct mRNA assay result for this exact variant was identified.
Still missing
- Direct RNA splicing assay data showing whether c.9117G>A causes an abnormal loss-of-function transcript would be needed for any RNA-based PVS1 assessment.
Sources
PM2 This variant is not absent from population databases. It is present in gnomAD v2.1 at 1/248378 alleles (AF 0.00000403) and in gnomAD v4.1 at 6/1613032 alleles (AF 0.00000372), so the ENIGMA BRCA2 PM2 absence criterion is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM2 is supporting only when the variant is absent from controls.
Evidence considered
- gnomAD v2.1 total AF 4.02612e-06
- AC 1/248378.
- gnomAD v4.1 total AF 3.71969e-06
- AC 6/1613032.
Sources
BA1 The observed population frequency is well below the ENIGMA BA1 threshold. In gnomAD v4.1 the highest filter allele frequency was 0.00000183, which is below the BA1 threshold of 0.001, so BA1 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BA1 requires FAF greater than 0.001.
Evidence considered
- gnomAD v4.1 grpmax FAF 1.83e-06.
Sources
BS1 The observed population frequency does not reach the ENIGMA BS1 thresholds. In gnomAD v4.1 the highest filter allele frequency was 0.00000183, which is below the supporting threshold of 0.00002 and below the strong threshold of 0.0001, so BS1 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS1 applies when FAF is above 0.00002 (supporting) or above 0.0001 (strong).
Evidence considered
- gnomAD v4.1 grpmax FAF 1.83e-06.
Sources
BP1 This synonymous variant lies within the BRCA2 DNA-binding region (amino acids 2481-3186), and SpliceAI predicts splice impact with a maximum delta score of 0.89. BP1_Strong requires a silent or missense/in-frame variant outside a clinically important domain and no predicted splice impact (SpliceAI ≤0.10), so BP1 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP1_Strong requires location outside key functional domains and SpliceAI at or below 0.10.
Evidence considered
- Protein position 3039 is within BRCA2 DNA-binding domain 2481-3186.
- SpliceAI max delta score 0.89.
Sources
BP4 For a silent variant in a clinically important BRCA2 domain, BP4 requires no predicted splice impact with SpliceAI at or below 0.10. This variant has a SpliceAI maximum delta score of 0.89, which is above that threshold, so BP4 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP4 for silent variants requires SpliceAI ≤0.10.
Evidence considered
- SpliceAI max delta score 0.89.
- Protein position 3039 is within the BRCA2 DNA-binding domain.
Sources
BP5 Clinical-history likelihood-ratio analysis for BRCA2 c.9117G>A showed LR 3.91 in 12 probands, which is above the benign BP5 threshold of 0.48 and therefore does not support BP5. The value is in the pathogenic rather than benign direction. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP5 applies only when the multifactorial clinical LR is at or below 0.48.
Evidence considered
- Li 2020 BRCA2 clinical-history table: LR 3.910369863346765
- N_Probands 12.
Sources
BP7 This is a silent variant within the BRCA2 DNA-binding domain, but BP7 for this setting requires BP4 to be met, and BP4 is not met because SpliceAI predicts strong splice impact with a maximum delta score of 0.89. No benign RNA assay evidence was identified for BP7(RNA). Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP7 for silent variants inside a key domain requires BP4, unless RNA studies directly support a benign transcript effect.
Evidence considered
- SpliceAI max delta score 0.89.
- Protein position 3039 is within the BRCA2 DNA-binding domain.
- No benign RNA assay result for this exact variant was identified.
Still missing
- A direct RNA study showing no damaging transcript effect would be needed for any RNA-based BP7 assessment.
Sources
Not assessed · 8 · no assessment recorded
PS1 No same-amino-acid-change comparator or same proven splice-effect pathogenic comparator was identified here for this variant, so PS1 was not applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PS1 may be used for the same protein change or the same demonstrated splice impact as a previously classified pathogenic or likely pathogenic variant.
Evidence considered
- Variant is synonymous p.(Pro3039=).
- No qualifying PS1 comparator was identified in the reviewed materials.
Still missing
- A clearly documented pathogenic or likely pathogenic reference variant with the same demonstrated splice consequence would be needed.
Sources
PS3 No calibrated protein functional assay result for BRCA2 c.9117G>A was identified in the reviewed BRCA2 functional table, so PS3 was not applied. Details ▾Hide ▴
Rule
Apply PS3 only when well-established functional studies for the exact variant support a damaging effect.
Evidence considered
- No exact c.9117G>A / p.(Pro3039=) entry was identified in BRCA2 Table 9.
Still missing
- A calibrated functional study for this exact variant showing damaging effect would be needed.
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
PS4 This variant has been reported in affected individuals and is listed as pathogenic in expert-curated resources, but no case-control analysis meeting the BRCA2 PS4 rule was identified here. PS4 was therefore not applied in this pass. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PS4 requires a significant enrichment in affected individuals compared with controls.
Evidence considered
- ClinVar expert panel classifies the variant as pathogenic.
- The ENIGMA supplementary reference-set table lists c.9117G>A as class 5 / likely pathogenic reference-set evidence.
Still missing
- A qualifying case-control analysis or explicit ENIGMA PS4-ready odds assessment for this exact variant would be needed.
Sources
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 applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM3 is reserved for BRCA2-related Fanconi anemia contexts with point-based trans observations.
Evidence considered
- No PM3-specific Fanconi anemia evidence was identified.
Still missing
- Documented Fanconi anemia phenotype and qualifying phase/co-occurrence evidence would be needed.
Sources
PP1 No quantitative co-segregation likelihood ratio was identified for this variant, so PP1 was not applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP1 requires quantitative segregation evidence reaching the specified likelihood-ratio thresholds.
Evidence considered
- No PP1 segregation LR was identified in the reviewed materials.
Still missing
- A quantitative segregation analysis with LR at or above the ENIGMA PP1 threshold would be needed.
Sources
BS2 No point-based evidence was identified showing this variant in individuals without features of BRCA2-related Fanconi anemia as required by the BRCA2 ENIGMA BS2 rule, so BS2 was not applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS2 is a Fanconi-anemia-context rule with point-based thresholds.
Evidence considered
- No BS2-specific point-based evidence was identified.
Still missing
- Qualifying BRCA2-related Fanconi anemia exclusion evidence with the required point total would be needed.
Sources
BS3 No calibrated benign functional assay result for BRCA2 c.9117G>A was identified in the reviewed BRCA2 functional table, so BS3 was not applied. Details ▾Hide ▴
Rule
Apply BS3 only when well-established functional studies for the exact variant support no damaging effect.
Evidence considered
- No exact c.9117G>A / p.(Pro3039=) entry was identified in BRCA2 Table 9.
Still missing
- A calibrated functional study for this exact variant showing no damaging effect would be needed.
Sources
cspec ↗vcep_specifications_table9_v1_2_2024_11_18
BS4 No quantitative lack-of-segregation likelihood ratio was identified for this variant, so BS4 was not applied. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BS4 requires quantitative evidence for lack of segregation reaching the specified likelihood-ratio thresholds.
Evidence considered
- No BS4 segregation LR was identified in the reviewed materials.
Still missing
- A quantitative segregation analysis with LR at or below the ENIGMA BS4 threshold would be needed.
Sources
Not applicable · 9· recorded as not applicable Show reasons ▾Hide reasons ▴
PS2 N/ADe novo evidence is not used for BRCA2 in this framework, so PS2 is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- Framework marks PS2 as not applicable.
Sources
PM1 N/APM1 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/2 specification.
Evidence considered
- Framework marks PM1 as not applicable.
Sources
PM4 N/APM4 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks PM4 as not applicable.
Sources
PM5 N/AIn this framework PM5 is used for protein-termination-codon variants in eligible exons, and this variant is a synonymous substitution rather than a protein-truncating variant. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PM5 here applies to qualifying PTC variants, not synonymous substitutions.
Evidence considered
- Variant protein consequence is p.(Pro3039=).
- PM5 in BRCA2 Table 4 is a PTC-focused rule.
Sources
cspec ↗vcep_specifications_table4_v1_2_2024_11_18
PM6 N/APM6 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks PM6 as not applicable.
Sources
PP2 N/APP2 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks PP2 as not applicable.
Sources
BP2 N/ABP2 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks BP2 as not applicable.
Sources
BP3 N/ABP3 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks BP3 as not applicable.
Sources
BP6 N/ABP6 is not applicable in the BRCA2 ENIGMA framework. Details ▾Hide ▴
Rule
Not applicable in ENIGMA BRCA1/BRCA2 specification.
Evidence considered
- Framework marks BP6 as not applicable.
Sources
Identifiers
- Gene
- BRCA2
- Transcript
- NM_000059.4
- Coding (HGVS c.)
- NM_000059.4:c.9117G>A
- Protein (HGVS p.)
- NP_000050.3:p.(Pro3039=)
- GRCh38
- chr13:32379913 G>A
- GRCh37
- chr13:32954050 G>A
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
—
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 / 1,613,038 alleles
AF 3.72e-06 · 0 homozygotes · FAF 1.83e-06
gnomAD v2.1
1 / 248,378 alleles
AF 4.03e-06 · 0 homozygotes
By genetic ancestry
gnomAD v4.1
AF 3.7e-06 · 6 / 1,613,038 alleles · 0 hom · FAF 1.8e-06
| European (non-Finnish)6 / 1,179,458 | 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 / 248,378 alleles · 0 hom
| European (non-Finnish)1 / 111,660 | 9e-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= 3.71969e-06; MAF= 0.00037%, 6/1613038 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.08708e-06; MAF= 0.00051%, 6/1179458 alleles, homozygotes = 0); grpmax FAF= 1.83e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.02612e-06; MAF= 0.00040%, 1/248378 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.95576e-06; MAF= 0.00090%, 1/111660 alleles, homozygotes = 0).
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 SupportingSpliceAI predicts a strong splice effect for this synonymous variant, with a maximum delta score of 0.89, which is above the BRCA2 ENIGMA PP3 threshold of 0.20 for predicted splicing impact. This supports PP3 at supporting strength. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 PP3 applies for silent, missense/in-frame, and relevant intronic variants when SpliceAI is at least 0.20.
Evidence considered
- SpliceAI DS_AL 0.82
- DS_DL 0.89
- max delta score 0.89.
- Variant is a synonymous substitution eligible for splice-prediction-based PP3 assessment.
Sources
BP4 For a silent variant in a clinically important BRCA2 domain, BP4 requires no predicted splice impact with SpliceAI at or below 0.10. This variant has a SpliceAI maximum delta score of 0.89, which is above that threshold, so BP4 is not met. Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP4 for silent variants requires SpliceAI ≤0.10.
Evidence considered
- SpliceAI max delta score 0.89.
- Protein position 3039 is within the BRCA2 DNA-binding domain.
Sources
BP7 This is a silent variant within the BRCA2 DNA-binding domain, but BP7 for this setting requires BP4 to be met, and BP4 is not met because SpliceAI predicts strong splice impact with a maximum delta score of 0.89. No benign RNA assay evidence was identified for BP7(RNA). Details ▾Hide ▴
Rule
ENIGMA BRCA1/2 BP7 for silent variants inside a key domain requires BP4, unless RNA studies directly support a benign transcript effect.
Evidence considered
- SpliceAI max delta score 0.89.
- Protein position 3039 is within the BRCA2 DNA-binding domain.
- No benign RNA assay result for this exact variant was identified.
Still missing
- A direct RNA study showing no damaging transcript effect would be needed for any RNA-based BP7 assessment.
Sources
Statement
In silico
SpliceAI predicts possible splice impact for this variant (max delta score = 0.89).
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 / 1,613,038 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/38215/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/13-32954050-G-A?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr13-32379913-G-A?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000059.4%3Ac.9117…
- OncoKB ↗www.oncokb.org/gene/BRCA2/P3039=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=123601560
- 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= 3.71969e-06; MAF= 0.00037%, 6/1613038 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 5.08708e-06; MAF= 0.00051%, 6/1179458 alleles, homozygotes = 0); grpmax FAF= 1.83e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.02612e-06; MAF= 0.00040%, 1/248378 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.95576e-06; MAF= 0.00090%, 1/111660 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Pathogenic (32 clinical laboratories) 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 possible splice impact for this variant (max delta score = 0.89).
Functional
OncoKB oncogenicity for this specific variant: Unknown Oncogenic Effect (variant has not been individually curated).
Somatic
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV99061599, n = 1 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.