About POLE
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
POLE c.1360-6C>T, p.?
Classification
Likely benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely benign. Select a step to read what it means.
Likely benign.A likely benign classification under the recorded framework.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is León-Castillo et al. 2020 custom POLE framework. 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: 2
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 2
BS1Supporting
BS1 · supporting
The allele frequency of NM_006231.4:c.1360-6C>T in the African/African American subpopulation exceeds the 0.3% BS1 threshold for non-VCEP assessment: 0.324% in gnomAD v2.1 (81/24,970 alleles) and 0.353% in gnomAD v4.1 (262/74,194 alleles, including 2 homozygotes). The gnomAD v4.1 grpmax FAF is 0.318% (>0.3%). This frequency is greater than expected for a pathogenic variant in a rare cancer predisposition gene.
BS2Supporting
BS2 · supporting
Three homozygous individuals for NM_006231.4:c.1360-6C>T are observed in gnomAD v4.1 (exome data: 2 in the African/African American subpopulation, 1 in the South Asian subpopulation). For a gene where pathogenic germline variants are associated with a rare autosomal dominant cancer predisposition syndrome (POLE-associated polyposis and colorectal cancer), the observation of homozygous individuals in a population database is inconsistent with a pathogenic role.
Recorded classification: Likely benign
The León-Castillo et al. 2020 custom POLE framework (local gene-specific) was used. Two supporting benign criteria (BS1 and BS2) are met, satisfying the '>=2 Supporting benign' rule for Likely Benign. No pathogenic criteria are met.
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
376 / 1,574,938 alleles
gnomAD v4.1: 376 / 1,574,938 alleles. Recorded AF 0.00023874. Recorded homozygote count 3.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000357224; MAF= 0.03572%, 101/282736 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.00324389; MAF= 0.32439%, 81/24970 alleles, homozygotes = 0); grpmax FAF= 0.00250493.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
SpliceAI score
0.150 maximum delta
Recorded SpliceAI maximum delta score: 0.150. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
13 reported laboratory submissions
8 Likely benign · 5 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.
Context only
ClinVar ↗
No screenshot for this evidence
Functional evidence
Not recorded
No standalone functional evidence summary is recorded in evidence_summary.functional.
No listed criterion applied
OncoKB ↗
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Context only
COSMIC ↗
For specialists
Technical detail
ACMG/AMP criteria under León-Castillo et al. 2020 custom POLE framework, with the data and sources behind each one.
27 criteria with recorded statuses: 2 met · 19 not met · 0 not assessed · 6 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_006231.4:c.1360-6C>T is present in gnomAD v4.1 at an allele frequency of 0.0239% overall (376/1,574,938 alleles) and 0.353% in the African/African American subpopulation (262/74,194 alleles), exceeding the 0.3% threshold for BS1 at supporting benign strength.
Three homozygous individuals for c.1360-6C>T are observed in gnomAD v4.1 (2 African/African American, 1 South Asian), which is inconsistent with a pathogenic role in an autosomal dominant cancer predisposition syndrome, satisfying BS2 at supporting benign strength.
SpliceAI predicts no significant splice impact for this intronic variant (max delta score = 0.15, below the 0.2 threshold). The variant does not disrupt the canonical splice consensus sequence.
This variant has been reported in ClinVar as Likely benign by 8 clinical laboratories and Benign by 5 clinical laboratories (ClinVar ID 240389), with concordance across 13 clinical submitters, consistent with a benign interpretation.
No pathogenic ACMG/AMP criteria are met. Two supporting benign criteria (BS1 and BS2) are met, satisfying the >=2 supporting benign rule for a Likely Benign classification per the ACMG/AMP 2015 framework with custom POLE specifications.
No criteria match.
Met · 2
BS1 SupportingThe allele frequency of NM_006231.4:c.1360-6C>T in the African/African American subpopulation exceeds the 0.3% BS1 threshold for non-VCEP assessment: 0.324% in gnomAD v2.1 (81/24,970 alleles) and 0.353% in gnomAD v4.1 (262/74,194 alleles, including 2 homozygotes). The gnomAD v4.1 grpmax FAF is 0.318% (>0.3%). This frequency is greater than expected for a pathogenic variant in a rare cancer predisposition gene. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 African/African American AF: 0.324% (81/24
- 970 alleles)
- gnomAD v4.1 African/African American AF: 0.353% (262/74
- 194 alleles
- 2 homozygotes)
- gnomAD v4.1 grpmax FAF: 0.318% (>0.3% BS1 threshold)
- Three total homozygotes in gnomAD v4.1
Sources
BS2 SupportingThree homozygous individuals for NM_006231.4:c.1360-6C>T are observed in gnomAD v4.1 (exome data: 2 in the African/African American subpopulation, 1 in the South Asian subpopulation). For a gene where pathogenic germline variants are associated with a rare autosomal dominant cancer predisposition syndrome (POLE-associated polyposis and colorectal cancer), the observation of homozygous individuals in a population database is inconsistent with a pathogenic role. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1: 3 homozygous individuals (2 African/African American
- 1 South Asian)
- Autosomal dominant disease mechanism
- biallelic/homozygous state inconsistent with pathogenicity
Sources
Not met · 19 · evaluated, threshold not reached
PVS1 NM_006231.4:c.1360-6C>T is an intronic splice region variant located 6 bases upstream of exon 13. It does not fall into the generic PVS1 null-variant buckets of nonsense, frameshift, or canonical ±1,2 splice consensus variants. SpliceAI predicts no significant splice impact (max delta score = 0.15). PVS1 is not applicable. Details ▾Hide ▴
Evidence considered
- Variant is intronic (c.1360-6)
- not a null variant
- SpliceAI max delta score = 0.15
- below 0.2 threshold for predicted splice alteration
- POLE LOF mechanism is supported for germline disease but variant does not trigger PVS1
Sources
PS2 No de novo observation of NM_006231.4:c.1360-6C>T with confirmed maternity and paternity has been reported in the available literature or ClinVar submissions. Details ▾Hide ▴
Still missing
- No de novo data available
PS3 No variant-specific functional data exists for NM_006231.4:c.1360-6C>T. The Leon-Castillo et al. 2020 VCEP supplementary tables contain only missense variants in the exonuclease domain; this intronic variant is not represented. No experimental studies characterizing this splice region variant were identified. Details ▾Hide ▴
Evidence considered
- Variant absent from VCEP supplementary tables (missense-only)
- No functional studies identified in literature
Still missing
- No functional data available for this intronic variant
Sources
vcep_path_250_323
PS4 The custom POLE PS4 framework rule requires exact missense variant recurrence in both COSMIC and TCGA endometrial carcinoma cohorts with combined count >=10 and belonging to the established pathogenic set. This is an intronic variant, not present in COSMIC and not listed in the VCEP recurrence tables. No case-control or prevalence data is available for germline assessment. Details ▾Hide ▴
Evidence considered
- Variant not found in COSMIC
- Variant absent from VCEP Supplementary Table S1 recurrence data
- No germline case-control data available
Still missing
- No case-control or prevalence data for this intronic variant
Sources
vcep_path_250_323_s002
PM1 The custom POLE PM1 framework rules apply only to specific missense variants in the exonuclease domain (hotspot and non-hotspot tiers defined by Leon-Castillo et al. 2020). This intronic variant (c.1360-6C>T) is not a missense change and is not among the enumerated exonuclease domain substitutions. No hotspot or critical functional domain evidence applies to this intronic position. Details ▾Hide ▴
Evidence considered
- Variant is intronic
- not a missense exonuclease-domain substitution
- Not among the five established hotspot mutations or tiered non-hotspot variants
Sources
vcep_path_250_323_s002
PM2 NM_006231.4:c.1360-6C>T is present in gnomAD at appreciable frequency: v2.1 AF = 0.0357% (101/282,736 alleles), v4.1 AF = 0.0239% (376/1,574,938 alleles). The African/African American subpopulation AF exceeds the 0.3% BS1 threshold (v2.1: 0.324%; v4.1: 0.353%). Three homozygotes are observed in gnomAD v4.1. The variant is not absent from population controls, and the subpopulation frequency and homozygote count are inconsistent with PM2 application. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 101/282
- 736 alleles (AF = 0.0357%)
- 0 homozygotes
- gnomAD v4.1: 376/1
- 574
- 938 alleles (AF = 0.0239%)
- 3 homozygotes
- African/African American subpopulation AF v4.1: 0.353% (262/74
- 194 alleles
- 2 homozygotes)
- grpmax FAF v4.1: 0.318%
Sources
PM6 No de novo observation of NM_006231.4:c.1360-6C>T with confirmed maternity and paternity has been reported. PM6 requires a de novo event in a patient with the disease and no family history. Details ▾Hide ▴
Still missing
- No de novo data available
PP1 No co-segregation data is available for NM_006231.4:c.1360-6C>T. PP1 requires evidence of segregation with disease in multiple affected family members. Details ▾Hide ▴
Still missing
- No segregation data available
PP2 PP2 applies to missense variants in genes with a low rate of benign missense variation and where missense variants are a common mechanism of disease. c.1360-6C>T is an intronic variant, not a missense change. PP2 does not apply. Details ▾Hide ▴
Evidence considered
- Variant is not a missense change
- PP2 criteria not applicable
PP3 The custom POLE PP3 framework rule requires the exact missense variant to appear in Supplementary Table S2 or S3 with REVEL class 'likely disease causing' and <=1 benign in silico result. This intronic variant is not present in those tables. Generic PP3 assessment: SpliceAI max delta score is 0.15, below the 0.2 threshold for predicted splice impact. REVEL and BayesDel scores are unavailable (intronic variant). Multiple lines of computational evidence do not support a deleterious effect. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.15 (<0.2 threshold)
- no significant splice impact predicted
- REVEL not available (intronic variant
- no missense consequence)
- BayesDel not available
- Variant absent from VCEP Supplementary Tables S2 and S3
Sources
PP4 No specific patient phenotype data is available for individuals harboring NM_006231.4:c.1360-6C>T. PP4 requires the variant to be identified in a patient with a phenotype highly specific for the gene/disease. Details ▾Hide ▴
Still missing
- No patient phenotype data available
PP5 ClinVar reports NM_006231.4:c.1360-6C>T as Likely benign (8 clinical laboratories) and Benign (5 clinical laboratories), not as pathogenic. The ClinVar review status is 'criteria provided, single submitter' (1-star), which does not meet the 3-star expert panel threshold for PP5 application. No reputable source has reported this variant as pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar classification: Likely benign (8 labs)
- Benign (5 labs)
- Review status: criteria provided
- single submitter (1-star)
- No expert panel classification
- no source reports this variant as pathogenic
Sources
BA1 The highest subpopulation allele frequency for NM_006231.4:c.1360-6C>T is 0.353% (African/African American in gnomAD v4.1), which is below the 1% BA1 threshold for non-VCEP assessment. Details ▾Hide ▴
Evidence considered
- Highest subpopulation AF: 0.353% (gnomAD v4.1 African/African American)
- grpmax FAF: 0.318% (v4.1)
- Below 1% BA1 threshold
Sources
BS3 No well-established in vitro or in vivo functional studies demonstrate that NM_006231.4:c.1360-6C>T has no damaging effect on protein function or splicing. The variant has not been characterized in any functional assay. Details ▾Hide ▴
Still missing
- No functional studies available
BS4 No co-segregation data is available to assess lack of segregation with disease. BS4 requires the variant to be observed in trans or to show lack of segregation in affected family members. Details ▾Hide ▴
Still missing
- No segregation data available
BP2 No observation of NM_006231.4:c.1360-6C>T in trans with a known pathogenic POLE variant has been reported. BP2 requires co-occurrence data with a pathogenic variant. Details ▾Hide ▴
Still missing
- No co-occurrence data available
BP4 The custom POLE BP4 framework rule requires the exact missense variant to appear in Supplementary Table S2 or S3 with REVEL class 'Likely benign' and >=4 benign in silico results. This intronic variant is not present in those tables. Generic BP4: SpliceAI max delta score is 0.15 (<0.2 threshold), suggesting no splice impact, but multiple independent lines of computational evidence are not available to meet BP4 requirements. REVEL and BayesDel are unavailable for this intronic variant. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.15 (<0.2)
- suggesting no splice impact
- Insufficient independent computational lines to meet BP4 threshold
- REVEL/BayesDel unavailable (intronic variant)
Still missing
- Only one computational predictor (SpliceAI) available
Sources
BP5 No evidence is available demonstrating that NM_006231.4:c.1360-6C>T is found in a case with an alternate molecular basis for disease. BP5 requires documentation of a different causative variant explaining the phenotype. Details ▾Hide ▴
Still missing
- No alternate molecular basis data available
BP6 ClinVar reports NM_006231.4:c.1360-6C>T as Likely benign (8 clinical laboratories) and Benign (5 clinical laboratories). However, the review status is 'criteria provided, single submitter' (1-star), which does not meet the 3-star expert panel threshold required for BP6 application under the project's PP5/BP6 rule. The automatic BP6 rule requires ClinVar 3-star expert panel status. Details ▾Hide ▴
Evidence considered
- ClinVar classification: Likely benign (8 labs)
- Benign (5 labs)
- Review status: criteria provided
- single submitter (1-star)
- No 3-star expert panel review available
Sources
Not applicable · 6· recorded as not applicable Show reasons ▾Hide reasons ▴
PS1 N/APS1 applies only to nucleotide changes producing the same amino acid change as an established pathogenic missense variant. This is an intronic variant with no amino acid change. Details ▾Hide ▴
No further detail was recorded.
PM5 N/APM5 requires a missense change at the same amino acid residue as a known pathogenic missense change. c.1360-6C>T is an intronic variant with no protein consequence (NP_006222.2:p.?), so same-residue missense comparator semantics cannot be applied. Details ▾Hide ▴
Evidence considered
- Protein consequence is indeterminate (p.?)
- unable to parse residue context
- Intronic variant cannot satisfy classic same-residue PM5 semantics
Sources
pm5_candidates
BP1 N/ABP1 applies to missense variants in genes where primarily truncating variants are known to cause disease. c.1360-6C>T is an intronic variant, not a missense change. Details ▾Hide ▴
No further detail was recorded.
BP3 N/ABP3 applies to in-frame deletions/insertions in repetitive regions. c.1360-6C>T is a single nucleotide substitution in an intron, not an in-frame indel. Details ▾Hide ▴
No further detail was recorded.
BP7 N/ABP7 applies to synonymous (silent) variants where splicing prediction algorithms predict no impact on the splice consensus sequence and the nucleotide is not highly conserved. c.1360-6C>T is an intronic variant, not a synonymous coding change. Details ▾Hide ▴
No further detail was recorded.
PS5 N/APS5 applies only to novel missense changes at the same amino acid position as a known pathogenic missense change. This is an intronic variant with no amino acid change. Details ▾Hide ▴
No further detail was recorded.
Identifiers
- Gene
- POLE
- Transcript
- NM_006231.4
- Coding (HGVS c.)
- NM_006231.4:c.1360-6C>T
- Protein (HGVS p.)
- NP_006222.2:p.?
- GRCh38
- chr12:132673283 G>A
- GRCh37
- chr12:133249869 G>A
- ClinVar
- 240389
Gene diagram
Every interpreted variant in POLE, mapped onto the exon structure of NM_006231.4. Select a row to find it on the plot.
POLENM_006231.4
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 POLE
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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
376 / 1,574,938 alleles
AF 0.000239 · 3 homozygotes · FAF 0.00318
gnomAD v2.1
101 / 282,736 alleles
AF 0.000357 · 0 homozygotes · FAF 0.0025
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 0.00024 · 376 / 1,574,938 alleles · 3 hom · FAF 0.0032
| African/African American262 / 74,194 | 0.00352 hom |
| Middle Eastern14 / 5,992 | 0.0023 |
| Remaining individuals40 / 61,148 | 0.00065 |
| Admixed American28 / 59,988 | 0.00047 |
| South Asian13 / 90,316 | 0.000141 hom |
| European (non-Finnish)19 / 1,144,342 | 1.7e-05 |
0 alternate alleles recorded in 4 other groups: European (Finnish), Amish, East Asian, Ashkenazi Jewish.
gnomAD v2.1
AF 0.00036 · 101 / 282,736 alleles · 0 hom · FAF 0.0025
| African/African American81 / 24,970 | 0.0032 |
| Remaining individuals4 / 7,222 | 0.00055 |
| Admixed American11 / 35,434 | 0.00031 |
| South Asian2 / 30,614 | 6.5e-05 |
| European (non-Finnish)3 / 129,086 | 2.3e-05 |
0 alternate alleles recorded in 3 other groups: Ashkenazi Jewish, East Asian, European (Finnish).
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.00023874; MAF= 0.02387%, 376/1574938 alleles, homozygotes = 3) and has highest observed frequency in the African/African American population (AF= 0.00353128; MAF= 0.35313%, 262/74194 alleles, homozygotes = 2); grpmax FAF= 0.00317984.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000357224; MAF= 0.03572%, 101/282736 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.00324389; MAF= 0.32439%, 81/24970 alleles, homozygotes = 0); grpmax FAF= 0.00250493.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 The custom POLE PP3 framework rule requires the exact missense variant to appear in Supplementary Table S2 or S3 with REVEL class 'likely disease causing' and <=1 benign in silico result. This intronic variant is not present in those tables. Generic PP3 assessment: SpliceAI max delta score is 0.15, below the 0.2 threshold for predicted splice impact. REVEL and BayesDel scores are unavailable (intronic variant). Multiple lines of computational evidence do not support a deleterious effect. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.15 (<0.2 threshold)
- no significant splice impact predicted
- REVEL not available (intronic variant
- no missense consequence)
- BayesDel not available
- Variant absent from VCEP Supplementary Tables S2 and S3
Sources
BP4 The custom POLE BP4 framework rule requires the exact missense variant to appear in Supplementary Table S2 or S3 with REVEL class 'Likely benign' and >=4 benign in silico results. This intronic variant is not present in those tables. Generic BP4: SpliceAI max delta score is 0.15 (<0.2 threshold), suggesting no splice impact, but multiple independent lines of computational evidence are not available to meet BP4 requirements. REVEL and BayesDel are unavailable for this intronic variant. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.15 (<0.2)
- suggesting no splice impact
- Insufficient independent computational lines to meet BP4 threshold
- REVEL/BayesDel unavailable (intronic variant)
Still missing
- Only one computational predictor (SpliceAI) available
Sources
BP7 N/ABP7 applies to synonymous (silent) variants where splicing prediction algorithms predict no impact on the splice consensus sequence and the nucleotide is not highly conserved. c.1360-6C>T is an intronic variant, not a synonymous coding change. Details ▾Hide ▴
No further detail was recorded.
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.15).
6 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards S et al. · 2015ACMG/AMP 2015 standards and guidelines for the interpretation of sequence variants. A foundational methodology document that defines the variant classification framework. NM_006231.4:c.1360-6C>T is not discussed in this paper.Does not name this variant
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PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Karbassi I et al. · 2016Describes a standardized DNA variant scoring system for pathogenicity assessments in Mendelian disorders (Karbassi et al. 2016). NM_006231.4:c.1360-6C>T is not discussed in this paper.Does not name this variant
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PMID 25394175 ↗A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Hampel H et al. · 2015ACMG/NSGC practice guideline on referral indications for cancer predisposition assessment (Hampel et al. 2015). A clinical practice guideline. NM_006231.4:c.1360-6C>T is not discussed.Does not name this variant
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PMID 26389258 ↗Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ Cancer Genetics Risk Assessment and Counseling summary. An informational summary on cancer genetics risk assessment. NM_006231.4:c.1360-6C>T is not discussed.Does not name this variant
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PMID 26389505 ↗Genetics of Colorectal Cancer (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ Genetics of Colorectal Cancer summary. An informational summary on colorectal cancer genetics. NM_006231.4:c.1360-6C>T is not discussed.Does not name this variant
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Nykamp K et al. · 2017Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (Nykamp et al. 2017). A methodology paper refining ACMG/AMP rules. NM_006231.4:c.1360-6C>T is not discussed.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
376 / 1,574,938 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.150
Open source ↗
ClinVar
8 Likely benign · 5 Benign
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/240389/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/12-133249869-G-A?dataset=gnom…
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr12-132673283-G-A?dataset=g…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/12-132673283-G-A
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_006231.4%3Ac.1360…
- OncoKB ↗www.oncokb.org/gene/POLE/?
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=POLE+c.1360-6C%3ET
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= 0.00023874; MAF= 0.02387%, 376/1574938 alleles, homozygotes = 3) and has highest observed frequency in the African/African American population (AF= 0.00353128; MAF= 0.35313%, 262/74194 alleles, homozygotes = 2); grpmax FAF= 0.00317984.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.000357224; MAF= 0.03572%, 101/282736 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.00324389; MAF= 0.32439%, 81/24970 alleles, homozygotes = 0); grpmax FAF= 0.00250493.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
ClinVar
This variant has been reported in ClinVar as Likely benign (8 clinical laboratories) and as Benign (5 clinical laboratories). (ClinVarID = 240389)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.15).
Somatic
This variant has not previously been reported in somatic cancers (COSMIC).