About DICER1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
DICER1 c.3033G>A, p.(Ala1011=)
Classification
Benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.
Benign.A benign classification under the recorded framework.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is ClinGen DICER1 VCEP v1.4.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 0
Benign evidence criteria: 3
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 3
BA1Stand alone
BA1 · stand alone
This variant exceeds the DICER1 BA1 threshold of >0.003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 variant alleles. In gnomAD v4.1, the African/African American subpopulation frequency is 0.118819 (8910/74988 alleles); gnomAD v2.1 similarly shows 0.121573 (3033/24948 alleles).
BS1Strong
BS1 · strong
This variant exceeds the DICER1 BS1 threshold of >0.0003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 variant alleles. In gnomAD v4.1, the African/African American subpopulation frequency is 0.118819 (8910/74988 alleles), well above the threshold.
BS2Supporting
BS2 · supporting
This variant is observed in many homozygous individuals in population databases lacking individual clinical information, meeting the DICER1 BS2 Supporting rule for 2 or more homozygous observations without clinical data. gnomAD v4.1 reports 594 homozygotes overall, and gnomAD v2.1 reports 195 homozygotes overall.
Recorded classification: Benign
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.4.0 v1.4.0 point-based framework: BA1 stand-alone benign (-8) + BS1 strong (-4) + BS2 supporting (-1) = -13 points, which maps to Benign.
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
10,122 / 1,614,094 alleles
gnomAD v4.1: 10,122 / 1,614,094 alleles. Recorded AF 0.00627101. Recorded homozygote count 594.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.0116822; MAF= 1.16822%, 3303/282738 alleles, homozygotes = 195) and has highest observed frequency in the African/African American population (AF= 0.121573; MAF= 12.15729%, 3033/24948 alleles, homozygotes = 193); grpmax FAF= 0.117343.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0085289; MAF= 0.85289%, 157/18408 alleles, homozygotes = 11) and has highest observed frequency in the afr population (AF= 0.140472; grpmax FAF95= 0.121724).
SpliceAI score
0.010 maximum delta
Recorded SpliceAI maximum delta score: 0.010. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
12 reported laboratory submissions
11 Benign · 1 benign.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen DICER1 VCEP v1.4.0, with the data and sources behind each one.
28 criteria with recorded statuses: 3 met · 2 not met · 11 not assessed · 12 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The DICER1 NM_177438.3:c.3033G>A (NP_803187.1:p.(Ala1011=)) variant has been reported in ClinVar with multiple benign submissions.
This variant is common in population databases, including gnomAD v4.1 at 0.62710% overall and 11.88190% in the African/African American subpopulation (8910/74988 alleles, 594 homozygotes overall), which exceeds the DICER1 BA1 threshold of 0.3% and BS1 threshold of 0.03%.
SpliceAI predicts no significant splice impact, with a maximum delta score of 0.01, arguing against an abnormal splicing effect for this synonymous change, although BP4/BP7 were not fully applied because concordant MaxEntScan evidence was not identified.
No criteria match.
Met · 3
BA1 Stand aloneThis variant exceeds the DICER1 BA1 threshold of >0.003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 variant alleles. In gnomAD v4.1, the African/African American subpopulation frequency is 0.118819 (8910/74988 alleles); gnomAD v2.1 similarly shows 0.121573 (3033/24948 alleles). Details ▾Hide ▴
Rule
BA1: frequency >0.003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 alleles present.
Evidence considered
- gnomAD v4.1 AFR AF 0.118819 with AN 74988 and AC 8910
- gnomAD v2.1 AFR AF 0.121573 with AN 24948 and AC 3033
Sources
BS1 StrongThis variant exceeds the DICER1 BS1 threshold of >0.0003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 variant alleles. In gnomAD v4.1, the African/African American subpopulation frequency is 0.118819 (8910/74988 alleles), well above the threshold. Details ▾Hide ▴
Rule
BS1: frequency >0.0003 in a gnomAD subpopulation with >2,000 alleles tested and at least 5 alleles present.
Evidence considered
- gnomAD v4.1 AFR AF 0.118819
- gnomAD v2.1 AFR AF 0.121573
Sources
BS2 SupportingThis variant is observed in many homozygous individuals in population databases lacking individual clinical information, meeting the DICER1 BS2 Supporting rule for 2 or more homozygous observations without clinical data. gnomAD v4.1 reports 594 homozygotes overall, and gnomAD v2.1 reports 195 homozygotes overall. Details ▾Hide ▴
Rule
BS2_Supporting: 2+ observations of homozygosity in individuals lacking clinical information.
Evidence considered
- gnomAD v4.1 homozygotes 594
- gnomAD v2.1 homozygotes 195
Sources
Not met · 2 · evaluated, threshold not reached
PM2 Population frequency is far above the DICER1 PM2 threshold of <0.000005. In gnomAD v4.1, this variant is present at 0.006271 overall and 0.118819 in the African/African American subpopulation; in gnomAD v2.1, it is present at 0.011682 overall and 0.121573 in the same subpopulation. Details ▾Hide ▴
Rule
PM2_Supporting requires allele frequency <0.000005 across gnomAD with no more than one allele in any subpopulation.
Evidence considered
- gnomAD v4.1 overall AF 0.006271
- gnomAD v4.1 AFR AF 0.118819
- gnomAD v2.1 overall AF 0.011682
- gnomAD v2.1 AFR AF 0.121573
Sources
PP3 Available computational evidence does not support a damaging or splice-altering effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, and no other reviewed predictor provided evidence favoring pathogenicity for this synonymous change. Details ▾Hide ▴
Rule
PP3 requires agreement in splicing predictors predicting a splicing effect for synonymous/intronic/non-coding variants.
Evidence considered
- SpliceAI max delta 0.01
- Synonymous variant
Sources
Not assessed · 11 · no assessment recorded
PS1 Available evidence does not establish a DICER1 pathogenic comparator producing the same amino-acid outcome with equivalent splicing context, so PS1 was not assessed. Details ▾Hide ▴
Rule
PS1 requires an established pathogenic comparator with the same amino-acid change and no relevant splicing difference.
Evidence considered
- Synonymous variant p.(Ala1011=)
- SpliceAI max delta 0.01
Still missing
- No same-amino-acid pathogenic comparator was identified in the reviewed evidence.
Sources
PS2 No confirmed de novo observation with parental testing was identified, so PS2 was not assessed. Details ▾Hide ▴
Rule
PS2 uses DICER1 de novo point thresholds.
Evidence considered
- No de novo evidence in reviewed materials
Still missing
- No de novo data were identified.
Sources
PS3 No RNA study or other DICER1 functional assay demonstrating an abnormal effect for this variant was identified, so PS3 was not assessed. Details ▾Hide ▴
Rule
PS3 requires qualifying RNA or functional assay evidence under the DICER1 specification.
Evidence considered
- No variant-specific RNA assay found
- No variant-specific functional assay found
Still missing
- No variant-specific functional or RNA assay data were identified.
Sources
PS4 No case-level phenotype-point evidence supporting enrichment in affected individuals was identified, so PS4 was not assessed. Details ▾Hide ▴
PP1 No segregation data were identified, so PP1 was not assessed. Details ▾Hide ▴
Rule
PP1 requires DICER1 segregation meiosis thresholds.
Evidence considered
- No segregation evidence in reviewed materials
Still missing
- No informative meioses or family segregation data were identified.
Sources
PP4 No tumor study showing retention of this germline variant with a qualifying DICER1 RNase IIIb hotspot second hit and no additional somatic DICER1 variants was identified, so PP4 was not assessed. Details ▾Hide ▴
Rule
PP4 requires specific DICER1 tumor-testing findings.
Evidence considered
- No qualifying tumor second-hit data found
- No hotspot evidence at A1011
Still missing
- No qualifying tumor second-hit evidence was identified.
Sources
BS3 No RNA assay showing normal splicing for this synonymous variant was identified, so BS3 was not assessed. Details ▾Hide ▴
Rule
BS3 for synonymous/intronic variants requires repeated RNA evidence showing no splicing impact.
Evidence considered
- No RNA assay found
- SpliceAI alone is not sufficient for BS3
Still missing
- No qualifying RNA assay with no splicing impact was identified.
Sources
BS4 No non-segregation data in affected relatives were identified, so BS4 was not assessed. Details ▾Hide ▴
Rule
BS4 requires phenotype-positive, genotype-negative relatives under the DICER1 specification.
Evidence considered
- No family non-segregation evidence in reviewed materials
Still missing
- No family non-segregation evidence was identified.
Sources
BP2 No evidence of this variant occurring in trans with a pathogenic or likely pathogenic DICER1 variant, or repeated cis/unknown-phase observations with different pathogenic variants, was identified. Details ▾Hide ▴
Rule
BP2 requires qualifying trans or repeated cis/phase-unknown observations with pathogenic DICER1 variants.
Evidence considered
- No co-occurrence evidence in reviewed materials
Still missing
- No qualifying co-occurrence or phase data were identified.
Sources
BP4 SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, which argues against abnormal splicing, but the DICER1 BP4 rule for synonymous variants requires concordance of MaxEntScan and SpliceAI. Concordant MaxEntScan evidence was not identified. Details ▾Hide ▴
Rule
BP4 for synonymous/intronic/non-coding variants requires concordance of MaxEntScan and SpliceAI predicting no splicing effect.
Evidence considered
- SpliceAI max delta 0.01
- No MaxEntScan result identified
Still missing
- No MaxEntScan result was identified to confirm predictor concordance required by the DICER1 rule.
Sources
BP7 This is a synonymous variant, but the DICER1 BP7 rule has a caveat that BP4 must also be met. Because concordant MaxEntScan and SpliceAI evidence needed for BP4 was not identified, BP7 was not assessed. Details ▾Hide ▴
Rule
BP7 applies to silent variants only when BP4 is also met under the DICER1 specification.
Evidence considered
- Synonymous variant p.(Ala1011=)
- SpliceAI max delta 0.01
- BP4 prerequisite not fully met
Still missing
- No MaxEntScan result was identified to support BP4 and unlock BP7.
Sources
Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis synonymous variant does not create a premature stop, frameshift, or canonical ±1,2 splice-site change, and the reviewed PVS1 materials place it outside the DICER1 loss-of-function variant categories used for PVS1. Details ▾Hide ▴
Rule
DICER1 PVS1 applies to qualifying loss-of-function variants; this variant does not fit those classes.
Evidence considered
- Synonymous change p.(Ala1011=)
- Generic PVS1 scaffold excludes non-null variants
- DICER1 PVS1 framework reviewed
Sources
PM1 N/AThis variant is synonymous and does not alter a residue in the DICER1 RNase IIIb missense hotspot framework used for PM1. Details ▾Hide ▴
Rule
PM1 is specified for putative missense variants in defined RNase IIIb hotspot/domain residues.
Evidence considered
- p.(Ala1011=) synonymous
- No hotspot evidence at A1011
Sources
PM3 VCEPThe DICER1 specification lists PM3 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
PM4 N/AThis variant is not an in-frame insertion or deletion, so PM4 is not applicable. Details ▾Hide ▴
Rule
PM4 applies to in-frame indels under the DICER1 specification.
Evidence considered
- Synonymous single-nucleotide substitution
Sources
PM5 N/AThe reviewed PM5 candidate file indicates the DICER1 framework uses classic same-residue missense PM5 logic, and this variant is synonymous rather than missense-like. Details ▾Hide ▴
Rule
PM5 applies to qualifying missense variants with a pathogenic same-residue comparator.
Evidence considered
- PM5 mode classic same-residue missense
- Variant class not missense-like
Sources
cspec ↗pm5_candidates
PM6 VCEPThe DICER1 specification lists PM6 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
PP2 VCEPThe DICER1 specification lists PP2 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
PP5 VCEPThe DICER1 specification lists PP5 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
BP1 VCEPThe DICER1 specification lists BP1 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
BP3 VCEPThe DICER1 specification lists BP3 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
BP5 VCEPThe DICER1 specification lists BP5 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
BP6 VCEPThe DICER1 specification lists BP6 as not applicable. Details ▾Hide ▴
VCEP rule
Not applicable in the DICER1 specification.
Evidence considered
- Criterion marked not applicable by DICER1 specification
Sources
Identifiers
- Gene
- DICER1
- Transcript
- NM_177438.3
- Coding (HGVS c.)
- NM_177438.3:c.3033G>A
- Protein (HGVS p.)
- NP_803187.1:p.(Ala1011=)
- GRCh38
- chr14:95105738 C>T
- GRCh37
- chr14:95572075 C>T
- ClinVar
- 261921
Gene diagram
Every interpreted variant in DICER1, mapped onto the exon structure of NM_177438.3. Select a row to find it on the plot.
DICER1NM_177438.3
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 DICER1
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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
10,122 / 1,614,094 alleles
AF 0.00627 · 594 homozygotes · FAF 0.117
gnomAD v2.1
3,303 / 282,738 alleles
AF 0.0117 · 195 homozygotes · FAF 0.117
gnomAD-Canada v1.0
157 / 18,408 alleles
AF 0.00853 · 11 homozygotes · FAF 0.122
By genetic ancestry
gnomAD v4.1
AF 0.0063 · 10122 / 1,614,094 alleles · 594 hom · FAF 0.12
| African/African American8910 / 74,988 | 0.12574 hom |
| Remaining individuals527 / 62,510 | 0.008413 hom |
| Admixed American447 / 60,030 | 0.00744 hom |
| Middle Eastern21 / 6,060 | 0.00351 hom |
| South Asian69 / 91,078 | 0.000762 hom |
| European (non-Finnish)147 / 1,179,988 | 0.00012 |
| East Asian1 / 44,886 | 2.2e-05 |
0 alternate alleles recorded in 3 other groups: European (Finnish), Amish, Ashkenazi Jewish.
gnomAD v2.1
AF 0.012 · 3303 / 282,738 alleles · 195 hom · FAF 0.12
| African/African American3033 / 24,948 | 0.12193 hom |
| Admixed American194 / 35,434 | 0.00552 hom |
| Remaining individuals33 / 7,218 | 0.0046 |
| South Asian22 / 30,610 | 0.00072 |
| European (non-Finnish)21 / 129,088 | 0.00016 |
0 alternate alleles recorded in 3 other groups: Ashkenazi Jewish, East Asian, European (Finnish).
gnomAD-Canada
AF 0.0085 · 157 / 18,408 alleles · 11 hom · FAF 0.12
| afr143 / 1,018 | 0.1411 hom |
| oth8 / 1,138 | 0.007 |
| amr5 / 836 | 0.006 |
| nfe1 / 11,732 | 8.5e-05 |
0 alternate alleles recorded in 5 other groups: asj, eas, fin, mid, sas.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.00627101; MAF= 0.62710%, 10122/1614094 alleles, homozygotes = 594) and has highest observed frequency in the African/African American population (AF= 0.118819; MAF= 11.88190%, 8910/74988 alleles, homozygotes = 574); grpmax FAF= 0.116756.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.0116822; MAF= 1.16822%, 3303/282738 alleles, homozygotes = 195) and has highest observed frequency in the African/African American population (AF= 0.121573; MAF= 12.15729%, 3033/24948 alleles, homozygotes = 193); grpmax FAF= 0.117343.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0085289; MAF= 0.85289%, 157/18408 alleles, homozygotes = 11) and has highest observed frequency in the afr population (AF= 0.140472; grpmax FAF95= 0.121724).
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 Available computational evidence does not support a damaging or splice-altering effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, and no other reviewed predictor provided evidence favoring pathogenicity for this synonymous change. Details ▾Hide ▴
Rule
PP3 requires agreement in splicing predictors predicting a splicing effect for synonymous/intronic/non-coding variants.
Evidence considered
- SpliceAI max delta 0.01
- Synonymous variant
Sources
BP4 SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, which argues against abnormal splicing, but the DICER1 BP4 rule for synonymous variants requires concordance of MaxEntScan and SpliceAI. Concordant MaxEntScan evidence was not identified. Details ▾Hide ▴
Rule
BP4 for synonymous/intronic/non-coding variants requires concordance of MaxEntScan and SpliceAI predicting no splicing effect.
Evidence considered
- SpliceAI max delta 0.01
- No MaxEntScan result identified
Still missing
- No MaxEntScan result was identified to confirm predictor concordance required by the DICER1 rule.
Sources
BP7 This is a synonymous variant, but the DICER1 BP7 rule has a caveat that BP4 must also be met. Because concordant MaxEntScan and SpliceAI evidence needed for BP4 was not identified, BP7 was not assessed. Details ▾Hide ▴
Rule
BP7 applies to silent variants only when BP4 is also met under the DICER1 specification.
Evidence considered
- Synonymous variant p.(Ala1011=)
- SpliceAI max delta 0.01
- BP4 prerequisite not fully met
Still missing
- No MaxEntScan result was identified to support BP4 and unlock BP7.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01).
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. · 2015No paper-specific finding is recorded.
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PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Karbassi I et al. · 2016No paper-specific finding is recorded.
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PMID 24493721 ↗American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.Lu KH et al. · 2014No paper-specific finding is recorded.
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PMID 24761742 ↗DICER1-Related Tumor Predisposition.Adam MP et al. · 1993No paper-specific finding is recorded.
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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. · 2015No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Nykamp K et al. · 2017No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
10,122 / 1,614,094 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.010
Open source ↗
ClinVar
11 Benign · 1 benign
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/643243094
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/261921/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/14-95572075-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr14-95105738-C-T?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/14-95105738-C-T
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_177438.3%3Ac.3033…
- OncoKB ↗www.oncokb.org/gene/DICER1/A1011=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=DICER1+c.3033G%3EA
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.00627101; MAF= 0.62710%, 10122/1614094 alleles, homozygotes = 594) and has highest observed frequency in the African/African American population (AF= 0.118819; MAF= 11.88190%, 8910/74988 alleles, homozygotes = 574); grpmax FAF= 0.116756.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.0116822; MAF= 1.16822%, 3303/282738 alleles, homozygotes = 195) and has highest observed frequency in the African/African American population (AF= 0.121573; MAF= 12.15729%, 3033/24948 alleles, homozygotes = 193); grpmax FAF= 0.117343.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0085289; MAF= 0.85289%, 157/18408 alleles, homozygotes = 11) and has highest observed frequency in the afr population (AF= 0.140472; grpmax FAF95= 0.121724).
ClinVar
This variant has been reported in ClinVar as Benign (11 clinical laboratories) and as benign (1 clinical laboratory). (ClinVarID = 261921)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01).
Functional
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
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.