0%
BRCA1c.5089T>CLikely pathogenic
Print report
Variant interpretation report

BRCA1 c.5089T>C, p.(Cys1697Arg)

NM_007294.3:c.5089T>C NP_009225.1:p.(Cys1697Arg) View identifiers
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.

About BRCA1

No gene-level summary was recorded for this case.

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: 4 Benign evidence criteria: 0
Pathogenic criteria applied · 4
PS3Strong
PS3 · strong

In calibrated functional studies summarized by the BRCA1 expert-panel specification, this variant showed abnormal protein function consistent with loss of function. Table 9 assigns PS3_Strong for c.5089T>C, and the supplementary functional dataset records complete functional impact/LOF.

PM2Supporting
PM2 · supporting

This variant is absent from gnomAD v2.1 and absent from gnomAD v4.1. That absence supports rarity in population controls and is consistent with PM2_Supporting.

PP3Supporting
PP3 · supporting

This missense variant lies within the BRCA1 BRCT repeats, a clinically important functional domain, and computational evidence supports a damaging protein effect. BayesDel is 0.398132, which is above the BRCA1 PP3 threshold of 0.28, REVEL is 0.914, and SpliceAI does not predict a meaningful splice effect (max delta score 0.08). These findings support PP3.

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 Table 3 final-classification framework (CSPEC/VCEP override in 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.

No screenshot for this evidence
Computational predictions
Not recorded

No SpliceAI or REVEL score is recorded in the fields used for this tile.

Applied · PP3 →
Functional evidence
Statement recorded

OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Loss-of-function; curated oncogenicity label: Likely Oncogenic.

Applied · PS3 → 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
COSMIC ↗Cancer Hotspots ↗
For specialists

Technical detail

ACMG/AMP criteria under ClinGen BRCA1 VCEP v1.2.0, with the data and sources behind each one.

28 criteria with recorded statuses: 4 met · 9 not met · 6 not assessed · 9 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic
PVS1PS1PS2PS3PS4PM1PM2PM3PM4PM5PM6PP1PP2PP3PP4PP5
Benign
BA1BS1BS2BS3BS4BP1BP2BP3BP4BP5BP6BP7
Met Not met Not assessed Not applicable

The BRCA1 c.5089T>C (p.Cys1697Arg) variant has not been observed in COSMIC and has been reported in ClinVar, including a pathogenic expert-panel classification from ClinGen ENIGMA.

This variant is absent from gnomAD v2.1 and gnomAD v4.1, supporting rarity in population controls.

In calibrated functional studies summarized by the BRCA1 expert-panel resources, this variant showed loss of BRCA1 function, and the expert-panel table assigns PS3_Strong.

Computational evidence supports a damaging protein effect because the variant is in the BRCA1 BRCT repeats, BayesDel is 0.398132 (above the PP3 threshold of 0.28), and REVEL is 0.914, while SpliceAI predicts no significant splice effect with a max delta score of 0.08.

Met · 4

PS3 StrongIn calibrated functional studies summarized by the BRCA1 expert-panel specification, this variant showed abnormal protein function consistent with loss of function. Table 9 assigns PS3_Strong for c.5089T>C, and the supplementary functional dataset records complete functional impact/LOF. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PS3 uses calibrated functional evidence; Table 9 assigns PS3_Strong for this variant.
Evidence considered
  • Specifications Table 9 row for BRCA1 c.5089T>C assigns PS3 Strong.
  • Supplementary Table 4 records Functional impact - complete and LOF for c.5089T>C.
  • Parsons supplementary dataset shows posterior probability 0.9998665902833963 and Pathogenic classification with functional impact - complete.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18vcep_humu_40_1557_s001
PM2 SupportingThis variant is absent from gnomAD v2.1 and absent from gnomAD v4.1. That absence supports rarity in population controls and is consistent with PM2_Supporting. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PM2 is applied at Supporting strength for absence from population controls.
Evidence considered
  • Absent from gnomAD v2.1.
  • Absent from gnomAD v4.1.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18
PP3 SupportingThis missense variant lies within the BRCA1 BRCT repeats, a clinically important functional domain, and computational evidence supports a damaging protein effect. BayesDel is 0.398132, which is above the BRCA1 PP3 threshold of 0.28, REVEL is 0.914, and SpliceAI does not predict a meaningful splice effect (max delta score 0.08). These findings support PP3. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PP3 applies to missense variants in a clinically important domain with BayesDel no-AF >=0.28.
Evidence considered
  • Residue 1697 is within the BRCA1 BRCT domain.
  • BayesDel score 0.398132.
  • REVEL score 0.914.
  • SpliceAI max delta score 0.08.
Sources
cspec ↗vcep_appendices_v1_2_2024_11_18bayesdelrevelspliceai ↗vcep_supplementarytables_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18
PP5 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Pathogenic. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists PP5 as not applicable.
  • ClinVar expert panel classification
Sources
cspec ↗clinvar ↗vcep_specifications_v1_2_2024_11_18

Not met · 9 · evaluated, threshold not reached

PVS1 This missense variant results in p.(Cys1697Arg) and is not a nonsense, frameshift, initiation-loss, or canonical +/-1,2 splice variant. SpliceAI predicts no significant splice effect (max delta score 0.08), so available evidence does not support a loss-of-function mechanism required for PVS1. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PVS1 applies to qualifying loss-of-function variants; this missense change does not meet that framework.
Evidence considered
  • BRCA1 is eligible for PVS1 at the gene level
  • but this exact variant is not in a default null-variant bucket.
  • SpliceAI max delta score 0.08 does not support a splice-driven loss-of-function effect.
Sources
pvs1_gene_contextpvs1_variant_assessmentcspec ↗spliceai ↗pvs1_generic_framework ↗
PP4 In the BRCA1 clinical-history likelihood-ratio table, this variant has an LR of 1.211619929099039 based on 1 proband. This value is below the PP4 threshold of 2.08, so the available clinical-history evidence does not support PP4. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PP4 requires clinical-history LR >=2.08.
Evidence considered
  • Clinical-history LR 1.211619929099039 for BRCA1 c.5089T>C.
  • N probands = 1.
Sources
vcep_pmid_31853058_brca1_clinical_history_lrPMID:31853058 ↗cspec ↗vcep_pmid_31853058_li_2020_geneticsinmedicine
BA1 This variant is absent from gnomAD v2.1 and gnomAD v4.1 and therefore does not exceed the BA1 population threshold. BA1 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BA1 requires filter allele frequency >0.1%.
Evidence considered
  • Absent from gnomAD v2.1.
  • Absent from gnomAD v4.1.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18
BS1 This variant is absent from gnomAD v2.1 and gnomAD v4.1 and therefore does not exceed the BS1 thresholds. BS1 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BS1 requires filter allele frequency above benign thresholds.
Evidence considered
  • Absent from gnomAD v2.1.
  • Absent from gnomAD v4.1.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18
BS3 Available functional evidence does not show normal BRCA1 function. Instead, calibrated studies summarized by the BRCA1 expert-panel resources show loss of function and assign PS3_Strong, so BS3 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BS3 requires well-established studies showing no damaging effect.
Evidence considered
  • Table 9 assigns PS3 Strong
  • not BS3.
  • Supplementary functional data record complete functional impact/LOF.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18vcep_humu_40_1557_s001
BP1 This missense variant is located within the BRCA1 BRCT repeats, which are a clinically important functional domain, and computational evidence supports a damaging effect rather than a benign one. BP1 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP1_Strong is for missense or silent variants outside clinically important domains with no splice impact.
Evidence considered
  • Residue 1697 lies in the BRCT domain.
  • BayesDel 0.398132 is not consistent with a benign missense prediction.
  • SpliceAI max delta 0.08 does not rescue the protein-based concern.
Sources
cspec ↗vcep_appendices_v1_2_2024_11_18bayesdelspliceai ↗vcep_specifications_v1_2_2024_11_18
BP4 This variant does not meet the BRCA1 BP4 rule because it is a missense change within a clinically important domain and BayesDel is 0.398132, which is above the benign BP4 threshold of 0.15. SpliceAI predicts no significant splice effect (max delta score 0.08), but the protein-based prediction does not support BP4. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP4 requires BayesDel no-AF <=0.15 and SpliceAI <=0.1 for relevant missense variants in important domains.
Evidence considered
  • BayesDel 0.398132 > 0.15.
  • SpliceAI max delta score 0.08 <= 0.1.
Sources
cspec ↗bayesdelspliceai ↗vcep_appendices_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18
BP5 In the BRCA1 clinical-history likelihood-ratio table, this variant has an LR of 1.211619929099039 based on 1 proband. This value is above the BP5 threshold of 0.48 and falls in the neutral zone, so BP5 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP5 requires clinical-history LR <=0.48.
Evidence considered
  • Clinical-history LR 1.211619929099039.
  • N probands = 1.
Sources
vcep_pmid_31853058_brca1_clinical_history_lrPMID:31853058 ↗cspec ↗vcep_pmid_31853058_li_2020_geneticsinmedicine
BP7 This is a missense variant within the BRCA1 BRCT repeats. Although SpliceAI predicts no significant splice impact (max delta score 0.08), available evidence does not show normal protein function, and BS3 is not met, so BP7 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP7 for missense variants in important domains requires benign functional context.
Evidence considered
  • Missense variant in BRCT domain.
  • SpliceAI max delta score 0.08.
  • Functional evidence supports PS3 rather than BS3.
Sources
cspec ↗spliceai ↗vcep_specifications_table9_v1_2_2024_11_18vcep_appendices_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18

Not assessed · 6 · no assessment recorded

PS1 No evidence was identified that this variant produces the same pathogenic amino acid or the same pathogenic splicing consequence as a previously established BRCA1 pathogenic variant. PS1 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PS1 requires the same pathogenic amino acid substitution or equivalent pathogenic splicing effect.
Evidence considered
  • PS1 requires a previously established pathogenic comparator with the same protein or splicing consequence.
Still missing
  • A curated same-amino-acid or same-splicing reference-variant check was not identified in the available materials.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PS4 Although this variant has been reported in affected individuals and is classified as pathogenic by the ClinVar ENIGMA expert panel, no case-control comparison with a significant odds ratio or lower confidence interval excluding 2.0 was identified. PS4 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PS4 requires significant enrichment in affected individuals versus controls.
Evidence considered
  • ClinVar expert-panel classification alone does not establish the BRCA1 PS4 case-control requirement.
Still missing
  • No variant-specific case-control study with OR and confidence interval was identified.
Sources
clinvar ↗cspec ↗vcep_specifications_v1_2_2024_11_18
PM3 No evidence was identified for biallelic BRCA1 disease with a second variant in trans in a patient with a phenotype consistent with BRCA1-related Fanconi anemia. PM3 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PM3 is reserved for specific biallelic Fanconi-anemia evidence.
Evidence considered
  • PM3 in this framework is limited to recessive Fanconi-anemia presentations with scored trans observations.
Still missing
  • No phase data or Fanconi-anemia phenotype data were identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP1 No quantitative co-segregation data were identified for this variant, so PP1 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PP1 requires a segregation likelihood ratio meeting defined thresholds.
Evidence considered
  • PP1 in this framework requires quantitative segregation evidence.
Still missing
  • No variant-specific segregation likelihood ratio or pedigree analysis was identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BS2 No scored observations of this variant in individuals without features of BRCA1-related Fanconi anemia were identified under the BRCA1 expert-panel BS2 framework. BS2 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BS2 requires point-based evidence from informative probands.
Evidence considered
  • BS2 in this framework uses scored proband observations in the absence of recessive disease features.
Still missing
  • No BS2 point-based proband data were identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BS4 No quantitative non-segregation data were identified for this variant, so BS4 was not applied. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BS4 requires a segregation likelihood ratio meeting benign thresholds.
Evidence considered
  • BS4 in this framework requires quantitative lack-of-segregation evidence.
Still missing
  • No segregation likelihood ratio in the benign direction was identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
Not applicable · 9· recorded as not applicable Show reasons ▾Hide reasons ▴
PS2 N/ADe novo occurrence is not used in this BRCA1 expert-panel framework, so PS2 is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists PS2 as not applicable for this framework.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PM1 N/APM1 is not used in this BRCA1 expert-panel framework for this variant context. Details ▾Hide ▴
Rule
Not applicable in the structured ENIGMA/ClinGen BRCA1 framework for this case.
Evidence considered
  • CSPEC lists PM1 as not applicable here.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18vcep_appendices_v1_2_2024_11_18
PM4 N/APM4 is not applicable because this is a missense substitution rather than a protein length-changing in-frame variant or stop-loss event, and the BRCA1 expert-panel framework does not use PM4 here. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists PM4 as not applicable here.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PM5 N/AThe BRCA1 expert-panel PM5 rule available in the reviewed materials is the PTC-specific PM5_PTC framework for qualifying truncating variants. This missense variant does not meet that PM5 context. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PM5 in the available reviewed framework is for qualifying PTC variants.
Evidence considered
  • Reviewed BRCA1 Table 4 guidance for PM5_PTC
  • this variant is not a protein-termination variant.
Sources
cspec ↗vcep_specifications_table4_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18
PM6 N/AAssumed de novo occurrence without confirmed maternity and paternity is not used in this BRCA1 expert-panel framework, so PM6 is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists PM6 as not applicable for this framework.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP2 N/APP2 is not used in this BRCA1 expert-panel framework, so it is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists PP2 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP2 N/ABP2 is not used in this BRCA1 expert-panel framework, so it is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists BP2 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP3 N/ABP3 is not used in this BRCA1 expert-panel framework, so it is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists BP3 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP6 N/ABP6 is not used in this BRCA1 expert-panel framework, so it is not applicable. Details ▾Hide ▴
Rule
Not applicable in ENIGMA/ClinGen BRCA1 specification.
Evidence considered
  • CSPEC lists BP6 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18

Identifiers

Gene
BRCA1
Transcript
NM_007294.3
Coding (HGVS c.)
NM_007294.3:c.5089T>C
Protein (HGVS p.)
NP_009225.1:p.(Cys1697Arg)
GRCh38
chr17:43063937 A>G
GRCh37
chr17:41215954 A>G

Gene diagram

Every interpreted variant in BRCA1, mapped onto the exon structure of NM_007294.3. Select a row to find it on the plot.

BRCA1NM_007294.3
Fetching transcript structure from UCSC…
gnomAD v4.1 Allele count data not recorded
gnomAD v2.1 Allele count data not recorded

Statements

gnomAD v4.1

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

Other predictors

REVEL
Not available
BayesDel
Not available

How the predictions were used

PP3 SupportingThis missense variant lies within the BRCA1 BRCT repeats, a clinically important functional domain, and computational evidence supports a damaging protein effect. BayesDel is 0.398132, which is above the BRCA1 PP3 threshold of 0.28, REVEL is 0.914, and SpliceAI does not predict a meaningful splice effect (max delta score 0.08). These findings support PP3. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 PP3 applies to missense variants in a clinically important domain with BayesDel no-AF >=0.28.
Evidence considered
  • Residue 1697 is within the BRCA1 BRCT domain.
  • BayesDel score 0.398132.
  • REVEL score 0.914.
  • SpliceAI max delta score 0.08.
Sources
cspec ↗vcep_appendices_v1_2_2024_11_18bayesdelrevelspliceai ↗vcep_supplementarytables_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18
BP4 This variant does not meet the BRCA1 BP4 rule because it is a missense change within a clinically important domain and BayesDel is 0.398132, which is above the benign BP4 threshold of 0.15. SpliceAI predicts no significant splice effect (max delta score 0.08), but the protein-based prediction does not support BP4. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP4 requires BayesDel no-AF <=0.15 and SpliceAI <=0.1 for relevant missense variants in important domains.
Evidence considered
  • BayesDel 0.398132 > 0.15.
  • SpliceAI max delta score 0.08 <= 0.1.
Sources
cspec ↗bayesdelspliceai ↗vcep_appendices_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18vcep_supplementarytables_v1_2_2024_11_18
BP7 This is a missense variant within the BRCA1 BRCT repeats. Although SpliceAI predicts no significant splice impact (max delta score 0.08), available evidence does not show normal protein function, and BS3 is not met, so BP7 is not met. Details ▾Hide ▴
Rule
ENIGMA/ClinGen BRCA1 BP7 for missense variants in important domains requires benign functional context.
Evidence considered
  • Missense variant in BRCT domain.
  • SpliceAI max delta score 0.08.
  • Functional evidence supports PS3 rather than BS3.
Sources
cspec ↗spliceai ↗vcep_specifications_table9_v1_2_2024_11_18vcep_appendices_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.08). REVEL score = 0.914. BayesDel score = 0.398132.

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 Captured gnomAD v4.1 source record 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

Statements for reports

The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.

gnomAD v4.1

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

ClinVar

This variant has been reported in ClinVar as Likely pathogenic (6 clinical laboratories) and as Pathogenic (5 clinical laboratories) and as Uncertain significance (2 clinical laboratories) 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 = 0.08). REVEL score = 0.914. BayesDel score = 0.398132.

Functional

OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Loss-of-function; curated oncogenicity label: Likely Oncogenic.

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.