About KIT
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
KIT c.-14T>A, p.?
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 Not recorded. 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: 4
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 4
BS1Strong
BS1 · strong
BS1 is met at strong level: allele frequency exceeds the 0.3% threshold in the European (non-Finnish) population. gnomAD v2.1 NFE AF = 0.592% and gnomAD v4.1 NFE AF = 0.654%, both substantially above the expected frequency for rare KIT-related germline disorders (familial GIST, piebaldism).
BS2Strong
BS2 · strong
BS2 is met at strong level: 35 homozygotes are observed in gnomAD v4.1 and 2 homozygotes in gnomAD v2.1. The presence of homozygous individuals in a general population database is inconsistent with a highly penetrant dominant germline disorder such as familial GIST or piebaldism, where homozygosity would be expected to be lethal or cause severe early-onset disease.
BP4Supporting
BP4 · supporting
BP4 is met at supporting level: SpliceAI predicts no splicing impact (max delta score = 0.00) for this 5'UTR variant. No other computational predictors suggest a deleterious effect. Multiple lines of computational evidence support a benign interpretation.
BP6Supporting
BP6 · supporting
BP6 is met at supporting level: ClinVar reports a consensus classification of Likely benign from multiple clinical laboratories (3 Likely benign, 1 Benign, 1 Uncertain significance). Multiple independent submitters using clinical testing methodology have reached a benign or likely benign conclusion.
Recorded classification: Benign
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: BS1 strong, BS2 strong, BP4 supporting, BP6 supporting; combination = 2 strong benign + 2 supporting benign, 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
8,496 / 1,613,094 alleles
gnomAD v4.1: 8,496 / 1,613,094 alleles. Recorded AF 0.0052669. Recorded homozygote count 35.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00347566; MAF= 0.34757%, 977/281098 alleles, homozygotes = 2) and has highest observed frequency in the European (non-Finnish) population (AF= 0.00592123; MAF= 0.59212%, 758/128014 alleles, homozygotes = 1); grpmax FAF= 0.00554939.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0056595559425337396, 104/18376 alleles, homozygotes = 0).
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
5 reported laboratory submissions
3 Likely benign · 1 Uncertain significance · 1 Benign. ClinVar API review status: criteria provided, conflicting classifications.
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
2 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV55412424, n = 2 times).
Context only
COSMIC ↗
For specialists
Technical detail
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
26 criteria with recorded statuses: 4 met · 15 not met · 0 not assessed · 7 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_000222.3:c.-14T>A is a 5'UTR substitution in the KIT gene, located 14 nucleotides upstream of the ATG start codon.
This variant is present at appreciable frequency in population databases: gnomAD v2.1 allele frequency 0.35% (977/281,098 alleles, 2 homozygotes) and gnomAD v4.1 allele frequency 0.53% (8,496/1,613,094 alleles, 35 homozygotes), with the highest subpopulation frequency of 0.65% in the European (non-Finnish) population (BS1).
The observation of 35 homozygous individuals in gnomAD v4.1 is incompatible with a highly penetrant dominant germline disorder such as familial GIST or piebaldism (BS2).
SpliceAI predicts no splicing impact (max delta score = 0.00); no computational evidence suggests a deleterious effect (BP4).
ClinVar classifies this variant as Likely benign based on submissions from multiple clinical laboratories; 4 of 5 submitters concluded benign or likely benign (BP6).
This variant has been reported in COSMIC (COSV55412424) in 2 somatic cancer samples, which is consistent with a benign germline variant occasionally detected in tumor sequencing.
No variant-specific functional studies, de novo occurrences, segregation data, or pathogenic assertions from reputable sources were identified for this variant.
No criteria match.
Met · 4
BS1 StrongBS1 is met at strong level: allele frequency exceeds the 0.3% threshold in the European (non-Finnish) population. gnomAD v2.1 NFE AF = 0.592% and gnomAD v4.1 NFE AF = 0.654%, both substantially above the expected frequency for rare KIT-related germline disorders (familial GIST, piebaldism). Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: NFE AF = 0.592% (758/128
- 014 alleles
- 1 homozygote)
- grpmax FAF = 0.555%. gnomAD v4.1: NFE AF = 0.654% (7
- 718/1
- 179
- 292 alleles
- 28 homozygotes)
- grpmax FAF = 0.642%. Both exceed the >0.3% BS1 threshold for a rare dominant disorder.
Sources
BS2 StrongBS2 is met at strong level: 35 homozygotes are observed in gnomAD v4.1 and 2 homozygotes in gnomAD v2.1. The presence of homozygous individuals in a general population database is inconsistent with a highly penetrant dominant germline disorder such as familial GIST or piebaldism, where homozygosity would be expected to be lethal or cause severe early-onset disease. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 2 homozygotes across 281
- 098 alleles. gnomAD v4.1: 35 homozygotes across 1
- 613
- 094 alleles. Homozygous state observed at frequency incompatible with a highly penetrant dominant disorder.
Sources
BP4 SupportingBP4 is met at supporting level: SpliceAI predicts no splicing impact (max delta score = 0.00) for this 5'UTR variant. No other computational predictors suggest a deleterious effect. Multiple lines of computational evidence support a benign interpretation. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.00
- all splice site gain/loss scores null. No REVEL
- BayesDel
- or HCI scores available (non-coding variant). The absence of any predicted splicing or regulatory impact supports a benign interpretation.
Sources
BP6 SupportingBP6 is met at supporting level: ClinVar reports a consensus classification of Likely benign from multiple clinical laboratories (3 Likely benign, 1 Benign, 1 Uncertain significance). Multiple independent submitters using clinical testing methodology have reached a benign or likely benign conclusion. Details ▾Hide ▴
Evidence considered
- ClinVar Variation ID 255567: 5 total submissions — Likely benign (3 clinical labs: PreventionGenetics
- Illumina ×2)
- Benign (1 clinical lab: Illumina)
- Uncertain significance (1 clinical lab: TU Dresden). No expert panel review. Consensus leans benign.
Still missing
- No expert panel (VCEP/CSPEC) review available.
Sources
Not met · 15 · evaluated, threshold not reached
PS2 No de novo occurrence data are available for this variant; PS2 requires confirmed de novo status with both maternity and paternity confirmed. Details ▾Hide ▴
Evidence considered
- No de novo observations reported in ClinVar or literature.
Still missing
- No de novo testing data available for this variant.
PS3 No well-established in vitro or in vivo functional studies have been identified for this 5'UTR variant; PS3 requires variant-specific functional evidence demonstrating a damaging effect on the gene or gene product. Details ▾Hide ▴
Evidence considered
- No functional studies identified
- variant is non-coding (5'UTR) and has no REVEL/BayesDel scores
- no SpliceAI delta (0.00)
- and no OncoKB functional data.
Still missing
- No in vitro or in vivo functional assays available for this variant.
PS4 The variant is present at 0.35–0.53% allele frequency in gnomAD population controls, inconsistent with a rare pathogenic variant; prevalence in affected individuals does not exceed that in the general population. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 977/281
- 098 alleles (0.35%)
- 2 homozygotes
- gnomAD v4.1: 8
- 496/1
- 613
- 094 alleles (0.53%)
- 35 homozygotes. Population frequency too high for rare dominant disorder.
Sources
PM1 This variant is a 5'UTR substitution located upstream of the coding sequence; it does not reside in a known mutational hotspot or critical functional domain of KIT. Details ▾Hide ▴
Evidence considered
- Variant is in the 5'UTR of exon 1
- not in a characterized functional domain
- hotspots analysis reports no significant residue and no exact variant listing.
PM2 PM2 requires absence or very low frequency in population databases (<0.1%). This variant is present in gnomAD v2.1 at 0.35% and v4.1 at 0.53%, well above the PM2 threshold. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 total AF = 0.3476% (977/281
- 098 alleles)
- gnomAD v4.1 total AF = 0.5267% (8
- 496/1
- 613
- 094 alleles). Both far exceed the 0.1% PM2 cutoff.
Sources
PM6 No de novo observation has been reported for this variant; PM6 requires a de novo occurrence with maternity and paternity not confirmed. Details ▾Hide ▴
Evidence considered
- No de novo reports identified in ClinVar submissions or literature.
Still missing
- No de novo testing data available.
PP1 No co-segregation data are available for this variant; PP1 requires co-segregation with disease in multiple affected family members. Details ▾Hide ▴
Evidence considered
- No family segregation studies identified in ClinVar or literature.
Still missing
- No segregation data available.
PP3 Multiple lines of computational evidence do not support a deleterious effect. SpliceAI delta score is 0.00 (no predicted splicing impact) and no REVEL/BayesDel/HCI scores are available for this non-coding variant. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.00 (acceptor gain
- acceptor loss
- donor gain
- donor loss all null)
- no REVEL score (non-coding)
- no BayesDel score (non-coding)
- no HCI prior score (gene not supported).
Still missing
- No coding-region in silico predictors available for 5'UTR variants.
Sources
PP4 No patient phenotype or family history data are available; PP4 requires that the patient's phenotype or family history is highly specific for a disease with a single genetic etiology. Details ▾Hide ▴
Evidence considered
- No phenotype or clinical data provided for this case.
Still missing
- No clinical phenotype or family history information available.
PP5 Reputable sources (ClinVar) do not report this variant as pathogenic; the ClinVar consensus classification is Likely benign (3 laboratories) with additional submissions of Benign (1) and Uncertain significance (1). No expert panel has asserted pathogenicity. Details ▾Hide ▴
Evidence considered
- ClinVar Variation ID 255567: Likely benign (3 clinical labs)
- Benign (1 clinical lab)
- Uncertain significance (1 clinical lab). No pathogenic assertion by any submitter. No expert panel review.
Sources
BA1 BA1 requires allele frequency >1% in any population. The highest observed subpopulation frequency is 0.654% in European (non-Finnish) gnomAD v4.1, which does not reach the 1% threshold. Details ▾Hide ▴
Evidence considered
- Highest subpopulation AF: 0.592% (NFE
- gnomAD v2.1)
- 0.654% (NFE
- gnomAD v4.1). Both below the 1% BA1 cutoff.
Sources
BS3 No well-established in vitro or in vivo functional studies demonstrating no damaging effect on protein function or splicing have been identified for this 5'UTR variant. Details ▾Hide ▴
Evidence considered
- No functional studies identified. SpliceAI delta = 0.00 but this alone does not constitute a well-established functional study.
Still missing
- No variant-specific functional assays available.
BS4 No co-segregation data are available; BS4 requires lack of segregation with disease in affected family members. Details ▾Hide ▴
Evidence considered
- No family segregation data available.
Still missing
- No segregation data available.
BP2 No evidence that this variant has been observed in trans with a pathogenic variant or in cis with a pathogenic variant in any individual. Details ▾Hide ▴
Evidence considered
- No data on phase with other pathogenic variants available.
Still missing
- No phase information with respect to known pathogenic KIT variants.
BP5 No evidence that this variant has been observed in a case with an alternate molecular basis for disease; BP5 requires identification of a different confirmed pathogenic variant explaining the phenotype in the same patient. Details ▾Hide ▴
Evidence considered
- No data on co-occurring pathogenic variants in affected individuals.
Still missing
- No information on alternate molecular diagnoses in carriers.
Not applicable · 7· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis 5'UTR substitution (c.-14T>A) does not fall into any null-variant bucket (nonsense, frameshift, or canonical ±1,2 splice consensus); PVS1 is not applicable per the ClinGen SVI PVS1 decision tree. Details ▾Hide ▴
Evidence considered
- Variant is a substitution 14 nucleotides upstream of the ATG start codon in the 5'UTR
- outside the coding sequence
- no null-variant mechanism applies.
Sources
pvs1_variant_assessmentpvs1_generic_framework ↗
PS1 N/APS1 applies to variants at the same amino acid position as a known pathogenic missense change; this is a 5'UTR non-coding variant with no protein consequence. Details ▾Hide ▴
Evidence considered
- Variant is a 5'UTR substitution with no amino acid change.
PM5 N/APM5 requires a different pathogenic missense change at the same amino acid residue; this is a 5'UTR non-coding variant with no protein residue context, confirmed by the automated PM5 candidate harvest. Details ▾Hide ▴
Evidence considered
- Variant is in 5'UTR
- protein consequence is NP_000213.1:p.? — no residue position available for PM5 comparison.
Sources
pm5_candidates
PP2 N/APP2 applies to missense variants in genes with a low rate of benign missense variation and where missense variants are a common disease mechanism; this is a 5'UTR substitution, not a missense variant. Details ▾Hide ▴
Evidence considered
- Variant is a 5'UTR substitution
- not a missense change.
BP1 N/ABP1 applies to missense variants in genes where primarily truncating variants cause disease; this is a 5'UTR substitution, not a missense variant. Details ▾Hide ▴
Evidence considered
- Variant is a 5'UTR substitution
- not a missense change.
BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on splicing; this is a 5'UTR substitution, not a synonymous coding variant. Details ▾Hide ▴
Evidence considered
- Variant is a 5'UTR substitution
- not a synonymous coding variant.
PS5 N/APS5 relies on pathogenic computational verdict from REVEL (>0.75) or BayesDel (>0.27); no REVEL or BayesDel scores are available for this non-coding 5'UTR variant. Details ▾Hide ▴
Evidence considered
- REVEL not found (non-coding position)
- BayesDel not found (non-coding position).
Identifiers
- Gene
- KIT
- Transcript
- NM_000222.3
- Coding (HGVS c.)
- NM_000222.3:c.-14T>A
- Protein (HGVS p.)
- NP_000213.1:p.?
- GRCh38
- chr4:54658001 T>A
- GRCh37
- chr4:55524168 T>A
- ClinVar
- 255567
- COSMIC
- COSV55412424
Gene diagram
Every interpreted variant in KIT, mapped onto the exon structure of NM_000222.3. Select a row to find it on the plot.
KITNM_000222.3
Fetching transcript structure from UCSC…
Exons
—
Transcript span
—
Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in KIT
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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
8,496 / 1,613,094 alleles
AF 0.00527 · 35 homozygotes · FAF 0.00642
gnomAD v2.1
977 / 281,098 alleles
AF 0.00348 · 2 homozygotes · FAF 0.00555
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 0.0053 · 8496 / 1,613,094 alleles · 35 hom · FAF 0.0064
| European (non-Finnish)7718 / 1,179,292 | 0.006528 hom |
| South Asian294 / 91,054 | 0.00326 hom |
| Remaining individuals199 / 62,466 | 0.0032 |
| Middle Eastern12 / 6,058 | 0.002 |
| Admixed American109 / 60,006 | 0.0018 |
| European (Finnish)90 / 63,908 | 0.00141 hom |
| African/African American72 / 75,000 | 0.00096 |
| Ashkenazi Jewish1 / 29,586 | 3.4e-05 |
| East Asian1 / 44,814 | 2.2e-05 |
0 alternate alleles recorded in 1 other group: Amish.
gnomAD v2.1
AF 0.0035 · 977 / 281,098 alleles · 2 hom · FAF 0.0055
| European (non-Finnish)758 / 128,014 | 0.00591 hom |
| Remaining individuals22 / 7,182 | 0.0031 |
| South Asian87 / 30,580 | 0.00281 hom |
| Admixed American54 / 35,354 | 0.0015 |
| European (Finnish)36 / 24,982 | 0.0014 |
| African/African American20 / 24,770 | 0.00081 |
0 alternate alleles recorded in 2 other groups: Ashkenazi Jewish, East Asian.
gnomAD-Canada
AF not recorded · ? / ? alleles
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.0052669; MAF= 0.52669%, 8496/1613094 alleles, homozygotes = 35) and has highest observed frequency in the European (non-Finnish) population (AF= 0.0065446; MAF= 0.65446%, 7718/1179292 alleles, homozygotes = 28); grpmax FAF= 0.00642186.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00347566; MAF= 0.34757%, 977/281098 alleles, homozygotes = 2) and has highest observed frequency in the European (non-Finnish) population (AF= 0.00592123; MAF= 0.59212%, 758/128014 alleles, homozygotes = 1); grpmax FAF= 0.00554939.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0056595559425337396, 104/18376 alleles, homozygotes = 0).
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
BP4 SupportingBP4 is met at supporting level: SpliceAI predicts no splicing impact (max delta score = 0.00) for this 5'UTR variant. No other computational predictors suggest a deleterious effect. Multiple lines of computational evidence support a benign interpretation. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.00
- all splice site gain/loss scores null. No REVEL
- BayesDel
- or HCI scores available (non-coding variant). The absence of any predicted splicing or regulatory impact supports a benign interpretation.
Sources
PP3 Multiple lines of computational evidence do not support a deleterious effect. SpliceAI delta score is 0.00 (no predicted splicing impact) and no REVEL/BayesDel/HCI scores are available for this non-coding variant. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.00 (acceptor gain
- acceptor loss
- donor gain
- donor loss all null)
- no REVEL score (non-coding)
- no BayesDel score (non-coding)
- no HCI prior score (gene not supported).
Still missing
- No coding-region in silico predictors available for 5'UTR variants.
Sources
BP7 N/ABP7 applies to synonymous (silent) variants for which splicing prediction algorithms predict no impact on splicing; this is a 5'UTR substitution, not a synonymous coding variant. Details ▾Hide ▴
Evidence considered
- Variant is a 5'UTR substitution
- not a synonymous coding variant.
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).
4 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
-
PMID 23852704 ↗Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.Duffy MJ et al. · 2014European Group on Tumor Markers 2014 guidelines for biomarkers in colorectal, gastric, and GIST cancers. Discusses KIT as a diagnostic and therapeutic biomarker for GISTs at the gene/protein level. NM_000222.3:c.-14T>A was not identified in this paper.Does not name this variant
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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. This is the foundational framework document for variant classification. Does not discuss any specific variant; NM_000222.3:c.-14T>A was not identified in this paper.Does not name this variant
-
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. Lists referral criteria for hereditary cancer syndromes including those with GISTs (e.g., Birt-Hogg-Dubé syndrome, NF1). NM_000222.3:c.-14T>A was not identified in this paper.Does not name this variant
-
PMID 22685257 ↗The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.Wong NA et al. · 2012UK NEQAS for Molecular Genetics scheme for GIST: findings and recommendations following four rounds of circulation. This is a quality assurance paper about GIST molecular diagnostic testing schemes. NM_000222.3:c.-14T>A was not identified in the abstract.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
8,496 / 1,613,094 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.000
Open source ↗
ClinVar
3 Likely benign · 1 Uncertain significance · 1 Benign
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/255567/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/4-55524168-T-A?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr4-54658001-T-A?dataset=gnomad_r4
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/4-54658001-T-A
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000222.3%3Ac.-14T…
- OncoKB ↗www.oncokb.org/gene/KIT/?
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=123261857
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= 0.0052669; MAF= 0.52669%, 8496/1613094 alleles, homozygotes = 35) and has highest observed frequency in the European (non-Finnish) population (AF= 0.0065446; MAF= 0.65446%, 7718/1179292 alleles, homozygotes = 28); grpmax FAF= 0.00642186.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00347566; MAF= 0.34757%, 977/281098 alleles, homozygotes = 2) and has highest observed frequency in the European (non-Finnish) population (AF= 0.00592123; MAF= 0.59212%, 758/128014 alleles, homozygotes = 1); grpmax FAF= 0.00554939.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0056595559425337396, 104/18376 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Likely benign (3 clinical laboratories) and as Uncertain significance (1 clinical laboratory) and as Benign (1 clinical laboratory). (ClinVarID = 255567)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).
Somatic
This variant has previously been reported in somatic cancers (COSMIC; COSV55412424, n = 2 times).