About TERT
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
TERT c.2517G>A, p.(Thr839=)
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
This variant is common in the general population. gnomAD v2.1 grpmax FAF is 0.656% (South Asian), and gnomAD v4.1 grpmax FAF is 0.728% (Ashkenazi Jewish). Both far exceed the 0.3% BS1 threshold. Observed in 2 homozygotes in v2.1 and 16 homozygotes in v4.1, confirming this is a common benign polymorphism.
BS2Strong
BS2 · strong
Observed in 16 homozygotes in gnomAD v4.1 and 2 homozygotes in gnomAD v2.1. Homozygous occurrence in a general population database is incompatible with a highly penetrant telomere biology disorder whether inherited in a dominant or recessive pattern.
BP4Supporting
BP4 · supporting
Multiple in silico tools uniformly predict no impact: REVEL score 0.176 (well within benign range), BayesDel score 0.124 (benign range), and SpliceAI max delta 0.00 (no predicted splicing alteration). All computational evidence supports a benign interpretation.
BP7Supporting
BP7 · supporting
NM_198253.2:c.2517G>A is a synonymous variant (p.Thr839=) with SpliceAI max delta score of 0.00, confirming no predicted impact on splicing. The variant does not create or disrupt a canonical splice site. BP7 is met at supporting level.
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 benign, BP7 supporting benign; 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
3,755 / 1,613,422 alleles
gnomAD v4.1: 3,755 / 1,613,422 alleles. Recorded AF 0.00232735. Recorded homozygote count 16.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00267744; MAF= 0.26774%, 754/281612 alleles, homozygotes = 2) and has highest observed frequency in the South Asian population (AF= 0.00735006; MAF= 0.73501%, 225/30612 alleles, homozygotes = 1); grpmax FAF= 0.00656256.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0028773072747014113, 53/18420 alleles, homozygotes = 1).
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
15 reported laboratory submissions
8 Likely benign · 7 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.
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
2 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV104395555, n = 2 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
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 · 10 not met · 0 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
NM_198253.2:c.2517G>A (p.Thr839=) is a synonymous variant in TERT exon 9.
This variant is common in population databases: gnomAD v2.1 AF 0.268% with 2 homozygotes, grpmax FAF 0.656% (BS1).
gnomAD v4.1 confirms high frequency: AF 0.233% with 16 homozygotes, grpmax FAF 0.728% (BS1).
Sixteen homozygotes observed in gnomAD v4.1, incompatible with a highly penetrant telomere biology disorder whether dominant or recessive (BS2).
Multiple in silico tools predict no functional impact: REVEL 0.176, BayesDel 0.124, SpliceAI max delta 0.00 (BP4).
Synonymous variant with no predicted splice alteration; SpliceAI max delta 0.00 (BP7).
ClinVar reports Likely benign (8 laboratories) and Benign (7 laboratories); however, review status is 1-star (criteria provided, single submitter), precluding application of BP6.
No functional studies, segregation data, case-control evidence, or de novo observations were identified for this variant in any reviewed source.
Classification: Benign. Two strong benign criteria (BS1, BS2) and two supporting benign criteria (BP4, BP7) are met. No pathogenic criteria are met.
No criteria match.
Met · 4
BS1 StrongThis variant is common in the general population. gnomAD v2.1 grpmax FAF is 0.656% (South Asian), and gnomAD v4.1 grpmax FAF is 0.728% (Ashkenazi Jewish). Both far exceed the 0.3% BS1 threshold. Observed in 2 homozygotes in v2.1 and 16 homozygotes in v4.1, confirming this is a common benign polymorphism. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: grpmax FAF 0.656% (>0.3% threshold)
- gnomAD v4.1: grpmax FAF 0.728% (>0.3% threshold)
- 2 homozygotes (v2.1)
- 16 homozygotes (v4.1)
Sources
BS2 StrongObserved in 16 homozygotes in gnomAD v4.1 and 2 homozygotes in gnomAD v2.1. Homozygous occurrence in a general population database is incompatible with a highly penetrant telomere biology disorder whether inherited in a dominant or recessive pattern. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1: 16 homozygotes observed
- gnomAD v2.1: 2 homozygotes observed
- Homozygous state incompatible with severe dominant or recessive telomere biology disorder
Sources
BP4 SupportingMultiple in silico tools uniformly predict no impact: REVEL score 0.176 (well within benign range), BayesDel score 0.124 (benign range), and SpliceAI max delta 0.00 (no predicted splicing alteration). All computational evidence supports a benign interpretation. Details ▾Hide ▴
Evidence considered
- REVEL 0.176 — benign prediction
- BayesDel 0.124 — benign prediction
- SpliceAI max delta 0.00 — no splice alteration predicted
Sources
BP7 SupportingNM_198253.2:c.2517G>A is a synonymous variant (p.Thr839=) with SpliceAI max delta score of 0.00, confirming no predicted impact on splicing. The variant does not create or disrupt a canonical splice site. BP7 is met at supporting level. Details ▾Hide ▴
Evidence considered
- Synonymous variant p.(Thr839=) with no amino acid change
- SpliceAI max delta 0.00 — no splice site creation or disruption predicted
Sources
Not met · 10 · evaluated, threshold not reached
PS3 No functional studies identified for NM_198253.2:c.2517G>A. Full-text review of all available publications (PMID:22138009, PMID:25741868, PMID:32171751) found no mention of this variant. OncoKB classification is 'Unknown Oncogenic Effect' with no supporting PMIDs. Details ▾Hide ▴
Evidence considered
- OncoKB: Unknown Oncogenic Effect
- no supporting PMIDs
- No variant-specific functional data in any reviewed publication
Still missing
- No experimental functional data for this variant
Sources
PS4 No case-control data demonstrating enrichment of this variant in affected individuals. Publications flagged for PS4 (PMID:26389258, PMID:26389333, PMID:32171751, PMID:33661592) are PDQ summaries and clinical practice guidelines for unrelated genes; none mention NM_198253.2:c.2517G>A. The high population frequency (AF 0.27%) further argues against case enrichment. Details ▾Hide ▴
Evidence considered
- gnomAD AF 0.27% (v2.1) and 0.23% (v4.1) — common in general population
- No case-control enrichment data identified
Still missing
- No affected-vs-control case data for this variant
Sources
PM1 Synonymous variant. No significant hotspot at this residue (cancerhotspots.org: not significant). PM1 applies to missense variants in critical functional domains or statistically significant hotspots; a synonymous variant without splice impact does not satisfy PM1. Details ▾Hide ▴
Evidence considered
- Hotspots: residue not significant
- Synonymous variant
- no domain disruption demonstrated
PM2 This variant is common in population databases. gnomAD v2.1: AF 0.268% (754/281,612 alleles, 2 homozygotes), grpmax FAF 0.656%. gnomAD v4.1: AF 0.233% (3,755/1,613,422 alleles, 16 homozygotes), grpmax FAF 0.728%. Well above the 0.1% PM2 threshold. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF=0.268%
- v4.1 AF=0.233% — far exceeds PM2 <0.1% threshold
- 16 homozygotes in v4.1
- 2 in v2.1
Sources
PP1 No segregation data available for this variant. Details ▾Hide ▴
Evidence considered
- No co-segregation data identified
Still missing
- No family segregation data
PP3 Multiple in silico tools uniformly predict a benign effect: REVEL 0.176, BayesDel 0.124, SpliceAI max delta 0.00. No computational evidence supports pathogenicity. Details ▾Hide ▴
Evidence considered
- REVEL score 0.176 (benign range)
- BayesDel score 0.124 (benign range)
- SpliceAI max delta 0.00 (no splice impact)
Sources
PP5 ClinVar review status is 'criteria provided, single submitter' (1-star), not 3-star expert panel. Per PP5/BP6 rule, supporting-level evidence requires 3-star EP status. Additionally, ClinVar classification is Likely benign/Benign; PP5 requires a pathogenic classification from a reputable source. Details ▾Hide ▴
Evidence considered
- ClinVar classification: Likely benign/Benign (8 LB + 7 B clinical laboratories)
- Review status: 1-star (criteria provided
- single submitter) — does not meet 3-star EP threshold for PP5
Sources
BA1 Highest subpopulation allele frequency: 0.735% (South Asian, gnomAD v2.1) and 0.777% (Ashkenazi Jewish, gnomAD v4.1). Neither exceeds the 1% BA1 (stand-alone benign) threshold. Details ▾Hide ▴
Evidence considered
- Max subpopulation AF 0.735% (v2.1 SAS) and 0.777% (v4.1 ASJ)
- Neither exceeds BA1 >1% threshold
Sources
BS3 No well-established in vitro or in vivo functional studies demonstrate no damaging effect on protein function or splicing for this specific variant. While in silico predictions are uniformly benign (see BP4), experimental functional evidence was not identified. Details ▾Hide ▴
Evidence considered
- No variant-specific functional studies identified
- In silico predictions assessed separately under BP4
Still missing
- No experimental functional data showing no damaging effect
Sources
BP6 ClinVar review status is 'criteria provided, single submitter' (1-star), not 3-star expert panel. Per PP5/BP6 rule, supporting-level evidence requires 3-star EP status. Although 15 clinical laboratories classify this variant as Likely benign (8) or Benign (7), the absence of expert panel review precludes BP6 application. Details ▾Hide ▴
Evidence considered
- ClinVar: 8 Likely benign + 7 Benign submissions from clinical laboratories
- Review status: 1-star (criteria provided
- single submitter) — does not meet 3-star EP threshold for BP6
Sources
Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/ANM_198253.2:c.2517G>A is a synonymous variant (p.Thr839=). SpliceAI predicts no splicing impact (max delta 0.00). Does not fall into PVS1 null-variant buckets (nonsense, frameshift, canonical ±1,2 splice). Details ▾Hide ▴
Evidence considered
- Synonymous variant p.(Thr839=)
- SpliceAI max delta score 0.00
Sources
pvs1_variant_assessmentspliceai ↗
PS1 N/ASynonymous variant produces no amino acid change. No same-residue missense to compare with an established pathogenic variant. Details ▾Hide ▴
Evidence considered
- Synonymous substitution with no amino acid change
PS2 N/ANo de novo data available for this variant. Details ▾Hide ▴
Evidence considered
- No de novo observation identified in any reviewed source
PM5 N/ASynonymous variant with no amino acid change. PM5 candidate harvesting could not resolve residue context; no comparator pathogenic missense at this codon. Details ▾Hide ▴
Evidence considered
- No amino acid change
- PM5 residue semantics unresolvable
Sources
pm5_candidates
PM6 N/ANo de novo data available for this variant. Details ▾Hide ▴
Evidence considered
- No de novo observation identified
PP2 N/ANM_198253.2:c.2517G>A is a synonymous variant, not a missense variant. PP2 applies to missense variants in genes with a low rate of benign missense variation. Details ▾Hide ▴
Evidence considered
- Synonymous variant — PP2 is missense-specific
PP4 N/ANo patient phenotype data available for specificity assessment. Details ▾Hide ▴
Evidence considered
- No phenotype-specific data provided
BS4 N/ANo family segregation data available to assess lack of co-segregation with disease. Details ▾Hide ▴
Evidence considered
- No segregation data identified
BP1 N/ANM_198253.2:c.2517G>A is a synonymous variant, not a missense variant. BP1 applies specifically to missense variants in genes where truncating/LoF is the primary disease mechanism. Details ▾Hide ▴
Evidence considered
- Synonymous variant — BP1 is missense-specific
BP2 N/ANo data on observation in trans with a pathogenic variant in a fully penetrant dominant gene. Details ▾Hide ▴
Evidence considered
- No trans-configuration data available
BP5 N/ANo alternate molecular basis for disease has been identified in this individual. Details ▾Hide ▴
Evidence considered
- No alternate molecular basis data available
PS5 N/ASynonymous variant produces no amino acid change. PS5 requires a different nucleotide change leading to the same amino acid change as an established pathogenic missense variant. Details ▾Hide ▴
Evidence considered
- Synonymous substitution with no amino acid change
Identifiers
- Gene
- TERT
- Transcript
- NM_198253.2
- Coding (HGVS c.)
- NM_198253.2:c.2517G>A
- Protein (HGVS p.)
- NP_937983.2:p.(Thr839=)
- GRCh38
- chr5:1268585 C>T
- GRCh37
- chr5:1268700 C>T
- ClinVar
- 263107
- COSMIC
- COSV104395555
Gene diagram
Every interpreted variant in TERT, mapped onto the exon structure of NM_198253.2. Select a row to find it on the plot.
TERTNM_198253.2
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 TERT
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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
3,755 / 1,613,422 alleles
AF 0.00233 · 16 homozygotes · FAF 0.00728
gnomAD v2.1
754 / 281,612 alleles
AF 0.00268 · 2 homozygotes · FAF 0.00656
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 0.0023 · 3755 / 1,613,422 alleles · 16 hom · FAF 0.0073
| Ashkenazi Jewish230 / 29,608 | 0.00783 hom |
| South Asian706 / 91,084 | 0.00788 hom |
| Middle Eastern41 / 6,062 | 0.00682 hom |
| European (Finnish)388 / 63,258 | 0.0061 |
| Remaining individuals178 / 62,502 | 0.00281 hom |
| European (non-Finnish)2154 / 1,180,012 | 0.00182 hom |
| Admixed American34 / 60,028 | 0.00057 |
| African/African American24 / 75,068 | 0.00032 |
0 alternate alleles recorded in 2 other groups: Amish, East Asian.
gnomAD v2.1
AF 0.0027 · 754 / 281,612 alleles · 2 hom · FAF 0.0066
| South Asian225 / 30,612 | 0.00741 hom |
| Ashkenazi Jewish71 / 10,308 | 0.0069 |
| European (Finnish)170 / 25,114 | 0.0068 |
| European (non-Finnish)256 / 128,192 | 0.0021 hom |
| Remaining individuals12 / 7,206 | 0.0017 |
| Admixed American13 / 35,394 | 0.00037 |
| African/African American6 / 24,844 | 0.00024 |
| East Asian1 / 19,942 | 5e-05 |
gnomAD-Canada
AF not recorded · ? / ? alleles
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.00232735; MAF= 0.23274%, 3755/1613422 alleles, homozygotes = 16) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00776817; MAF= 0.77682%, 230/29608 alleles, homozygotes = 3); grpmax FAF= 0.00727701.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00267744; MAF= 0.26774%, 754/281612 alleles, homozygotes = 2) and has highest observed frequency in the South Asian population (AF= 0.00735006; MAF= 0.73501%, 225/30612 alleles, homozygotes = 1); grpmax FAF= 0.00656256.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0028773072747014113, 53/18420 alleles, homozygotes = 1).
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.176
- BayesDel
- 0.124
How the predictions were used
BP4 SupportingMultiple in silico tools uniformly predict no impact: REVEL score 0.176 (well within benign range), BayesDel score 0.124 (benign range), and SpliceAI max delta 0.00 (no predicted splicing alteration). All computational evidence supports a benign interpretation. Details ▾Hide ▴
Evidence considered
- REVEL 0.176 — benign prediction
- BayesDel 0.124 — benign prediction
- SpliceAI max delta 0.00 — no splice alteration predicted
Sources
BP7 SupportingNM_198253.2:c.2517G>A is a synonymous variant (p.Thr839=) with SpliceAI max delta score of 0.00, confirming no predicted impact on splicing. The variant does not create or disrupt a canonical splice site. BP7 is met at supporting level. Details ▾Hide ▴
Evidence considered
- Synonymous variant p.(Thr839=) with no amino acid change
- SpliceAI max delta 0.00 — no splice site creation or disruption predicted
Sources
PP3 Multiple in silico tools uniformly predict a benign effect: REVEL 0.176, BayesDel 0.124, SpliceAI max delta 0.00. No computational evidence supports pathogenicity. Details ▾Hide ▴
Evidence considered
- REVEL score 0.176 (benign range)
- BayesDel score 0.124 (benign range)
- SpliceAI max delta 0.00 (no splice impact)
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.176. BayesDel score = 0.124075.
7 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 22138009 ↗NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.Febbo PG et al. · 2011NCCN Task Force report on evaluating clinical utility of tumor markers in oncology. Discusses biomarkers in glioma, breast, colon, lung, prostate cancer, and AML at a general level. NM_198253.2:c.2517G>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.ACMG/AMP 2015 standards and guidelines for interpretation of sequence variants. Provides the generic classification framework and evidence weighting rules but does not discuss any specific TERT variant. NM_198253.2:c.2517G>A was not identified.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 (NCBI Bookshelf). General cancer genetics counseling overview. NM_198253.2:c.2517G>A was not identified in the abstract or available metadata.Does not name this variant
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PMID 26389333 ↗Genetics of Skin Cancer (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ Genetics of Skin Cancer summary (NCBI Bookshelf). General overview of skin cancer genetics. NM_198253.2:c.2517G>A was not identified in the abstract or available metadata.Does not name this variant
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PMID 32171751 ↗Acute myeloid leukaemia in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.ESMO Clinical Practice Guidelines for diagnosis, treatment, and follow-up of acute myeloid leukemia in adult patients. Discusses AML classification, risk stratification, and treatment recommendations without mention of any specific TERT variant. NM_198253.2:c.2517G>A was not identified.Does not name this variant
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PMID 33661592 ↗RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies.Adam MP et al. · 1993PDQ RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies summary (NCBI Bookshelf). Discusses RUNX1-related disorders. NM_198253.2:c.2517G>A was not identified in the abstract or available metadata.Does not name this variant
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Provides an alternate classification framework but does not discuss any specific TERT variant. NM_198253.2:c.2517G>A was not identified.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
3,755 / 1,613,422 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
8 Likely benign · 7 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 ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/263107/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/5-1268700-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr5-1268585-C-T?dataset=gnomad_r4
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/5-1268585-C-T
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_198253.2%3Ac.2517…
- OncoKB ↗www.oncokb.org/gene/TERT/T839=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=127105789
- 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= 0.00232735; MAF= 0.23274%, 3755/1613422 alleles, homozygotes = 16) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00776817; MAF= 0.77682%, 230/29608 alleles, homozygotes = 3); grpmax FAF= 0.00727701.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.00267744; MAF= 0.26774%, 754/281612 alleles, homozygotes = 2) and has highest observed frequency in the South Asian population (AF= 0.00735006; MAF= 0.73501%, 225/30612 alleles, homozygotes = 1); grpmax FAF= 0.00656256.
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.0028773072747014113, 53/18420 alleles, homozygotes = 1).
ClinVar
This variant has been reported in ClinVar as Likely benign (8 clinical laboratories) and as Benign (7 clinical laboratories). (ClinVarID = 263107)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.176. BayesDel score = 0.124075.
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 previously been reported in somatic cancers (COSMIC; COSV104395555, n = 2 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.