STK11c.249G>ALikely benign

Print report

Variant interpretation report

STK11 c.249G>A, p.(Lys83=)

NM_000455.5:c.249G>A NP_000446.1:p.(Lys83=) View identifiers

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.

About STK11

No gene-level summary was recorded for this case.

Key facts

Evidence used: 3 supporting (benign) · 1 supporting (pathogenic)
Expert rules: Not recorded
Other laboratories (ClinVar): 3 Likely benign · 1 Likely Benign · 1 Benign
Pipeline record: 16 Jul 2026 · version 7.0.4

Evidence considered

View criteria

Applied evidence criteria

PM2 (supporting): NM_000455.5:c.249G>A is present at extremely low frequency in gnomAD v2.1 (AF=0.00073%, 2/272,834 alleles, 0 homozygotes) and gnomAD v4.1 (AF=0.00037%, 6/1,611,652 alleles, grpmax FAF=7.9e-7). This is well below the 0.1% threshold for PM2.
BP4 (supporting): Multiple lines of computational evidence suggest NM_000455.5:c.249G>A has no deleterious impact. SpliceAI predicts no splice alteration (max delta=0.00). REVEL and BayesDel are not applicable to synonymous variants, which is itself consistent with a lack of predicted functional effect.
BP6 (supporting): ClinVar classifies NM_000455.5:c.249G>A as Likely benign/Benign with consensus across 5 clinical laboratories (Ambry Genetics, Color Health, Invitae/Labcorp, All of Us, Myriad Genetics). Although review status is criteria provided single submitter per submission, the aggregate agreement of 5 independent clinical laboratories provides reputable source evidence for a benign classification.
BP7 (supporting): NM_000455.5:c.249G>A is a synonymous variant (p.Lys83=) for which SpliceAI predicts no impact on splicing (max delta score=0.00). There is no evidence of an effect on the splice consensus sequence or creation of a cryptic splice site. The variant meets BP7 criteria for a synonymous variant with no predicted splice alteration.

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: 1 Benign evidence criteria: 3

Pathogenic criteria applied · 1

PM2Supporting

PM2 · supporting

NM_000455.5:c.249G>A is present at extremely low frequency in gnomAD v2.1 (AF=0.00073%, 2/272,834 alleles, 0 homozygotes) and gnomAD v4.1 (AF=0.00037%, 6/1,611,652 alleles, grpmax FAF=7.9e-7). This is well below the 0.1% threshold for PM2.

Benign criteria applied · 3

BP4Supporting

BP4 · supporting

Multiple lines of computational evidence suggest NM_000455.5:c.249G>A has no deleterious impact. SpliceAI predicts no splice alteration (max delta=0.00). REVEL and BayesDel are not applicable to synonymous variants, which is itself consistent with a lack of predicted functional effect.

BP6Supporting

BP6 · supporting

ClinVar classifies NM_000455.5:c.249G>A as Likely benign/Benign with consensus across 5 clinical laboratories (Ambry Genetics, Color Health, Invitae/Labcorp, All of Us, Myriad Genetics). Although review status is criteria provided single submitter per submission, the aggregate agreement of 5 independent clinical laboratories provides reputable source evidence for a benign classification.

BP7Supporting

BP7 · supporting

NM_000455.5:c.249G>A is a synonymous variant (p.Lys83=) for which SpliceAI predicts no impact on splicing (max delta score=0.00). There is no evidence of an effect on the splice consensus sequence or creation of a cryptic splice site. The variant meets BP7 criteria for a synonymous variant with no predicted splice alteration.

Recorded classification: Likely 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: PM2 supporting, BP4 supporting, BP6 supporting, BP7 supporting; combination = 1 supporting + 3 supporting benign, which maps to Likely 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

6 / 1,611,652 alleles

gnomAD v4.1: 6 / 1,611,652 alleles. Recorded AF 3.72289e-06. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 7.33046e-06; MAF= 0.00073%, 2/272834 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.60601e-05; MAF= 0.00161%, 2/124532 alleles, homozygotes = 0).

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Applied · PM2 →

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.000 maximum delta

Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4, BP7 → SpliceAI ↗

ClinVar submissions

5 reported laboratory submissions

3 Likely benign · 1 Likely Benign · 1 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

Applied · BP6 → 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

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

29 criteria with recorded statuses: 4 met · 6 not met · 9 not assessed · 10 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_000455.5:c.249G>A (p.Lys83=) is a synonymous variant in STK11 with no predicted effect on splicing (SpliceAI max delta=0.00).

The variant is present at extremely low frequency in gnomAD (v2.1: 2/272,834 alleles, AF=0.00073%; v4.1: 6/1,611,652 alleles, AF=0.00037%), satisfying PM2 at supporting level.

ClinVar consensus from 5 clinical laboratories classifies this variant as Likely benign/Benign (ClinVar ID 486990), supporting BP6 at supporting strength.

As a synonymous variant with no predicted splice impact, BP7 applies at supporting strength.

Computational evidence shows no deleterious effect, satisfying BP4 at supporting strength.

No functional studies, case-control data, segregation data, or de novo reports were identified for this variant. PP5 is not met as ClinVar reports a benign classification. PS3, PS4, and PP3 are not met.

PVS1, PS1, PM1, PM5, PP2, and BP1 are not applicable as the variant is synonymous with no amino acid change. BA1, BS1 thresholds are not met due to extremely low population frequency.

Overall, the evidence profile shows 1 supporting pathogenic criterion (PM2) versus 3 supporting benign criteria (BP4, BP6, BP7). The net classification is Likely benign by ACMG/AMP 2015 combination rules.

Met · 4

PM2 SupportingNM_000455.5:c.249G>A is present at extremely low frequency in gnomAD v2.1 (AF=0.00073%, 2/272,834 alleles, 0 homozygotes) and gnomAD v4.1 (AF=0.00037%, 6/1,611,652 alleles, grpmax FAF=7.9e-7). This is well below the 0.1% threshold for PM2. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 total AF=7.33e-6 (2/272
834)
gnomAD v4.1 total AF=3.72e-6 (6/1
611
652)
absent from gnomAD-Canada.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP4 SupportingMultiple lines of computational evidence suggest NM_000455.5:c.249G>A has no deleterious impact. SpliceAI predicts no splice alteration (max delta=0.00). REVEL and BayesDel are not applicable to synonymous variants, which is itself consistent with a lack of predicted functional effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta=0.00
no in silico predictor suggests pathogenicity.

Sources

spliceai ↗

BP6 SupportingClinVar classifies NM_000455.5:c.249G>A as Likely benign/Benign with consensus across 5 clinical laboratories (Ambry Genetics, Color Health, Invitae/Labcorp, All of Us, Myriad Genetics). Although review status is criteria provided single submitter per submission, the aggregate agreement of 5 independent clinical laboratories provides reputable source evidence for a benign classification. Details ▾Hide ▴

Evidence considered

ClinVar ID 486990: 5 clinical laboratory submissions all classify as Benign or Likely benign (3 Likely benign
1 Likely Benign
1 Benign).

Sources

clinvar ↗

BP7 SupportingNM_000455.5:c.249G>A is a synonymous variant (p.Lys83=) for which SpliceAI predicts no impact on splicing (max delta score=0.00). There is no evidence of an effect on the splice consensus sequence or creation of a cryptic splice site. The variant meets BP7 criteria for a synonymous variant with no predicted splice alteration. Details ▾Hide ▴

Evidence considered

SpliceAI max delta=0.00
synonymous variant with no predicted splice impact.

Sources

spliceai ↗

Not met · 6 · evaluated, threshold not reached

PS3 No functional studies were identified for NM_000455.5:c.249G>A (p.Lys83=). The variant is synonymous and has not been characterized in any experimental assay. OncoKB lists Unknown Oncogenic Effect with no supporting PMIDs. Domain-level inference does not satisfy PS3's functional evidence requirement. Details ▾Hide ▴

Evidence considered

OncoKB classification: Unknown Oncogenic Effect
no variant-specific functional data found in literature review.

Still missing

No functional studies exist for this synonymous variant.

Sources

oncokb ↗

PP3 No in silico predictors support pathogenicity for NM_000455.5:c.249G>A. SpliceAI predicts no splice impact (max delta=0.00). REVEL and BayesDel scores are not available for this synonymous variant. No HCI prior probability is available for STK11. Details ▾Hide ▴

Evidence considered

SpliceAI max delta 0.00
REVEL/BayesDel/HCI prior not available.

Sources

spliceai ↗

PP5 ClinVar classifies NM_000455.5:c.249G>A as Likely benign (ClinVar ID 486990, review status: criteria provided, single submitter). PP5 requires a reputable source to report the variant as pathogenic; the ClinVar consensus is benign/likely benign. Details ▾Hide ▴

Evidence considered

ClinVar classification: Likely benign from 3 labs
Likely Benign from 1 lab
Benign from 1 lab
no expert panel review
no submitter classified as pathogenic.

Sources

clinvar ↗

BA1 The maximum allele frequency of NM_000455.5:c.249G>A in gnomAD v2.1 is 0.0016% (European non-Finnish) and in gnomAD v4.1 is 0.0016% (Remaining individuals). Both are far below the 1% BA1 threshold. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 max subpopulation AF=0.0016% (NFE)
gnomAD v4.1 max subpopulation AF=0.0016% (Remaining).

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 The maximum allele frequency of NM_000455.5:c.249G>A is 0.0016% in gnomAD, which is below the 0.3% BS1 threshold for a dominant disorder such as Peutz-Jeghers syndrome. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 max subpopulation AF=0.0016%
gnomAD v4.1 max subpopulation AF=0.0016%.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS3 No functional studies demonstrating a benign effect have been identified for NM_000455.5:c.249G>A. While SpliceAI predicts no splice impact (delta=0.00), BS3 requires experimental functional evidence, not solely in silico predictions. Details ▾Hide ▴

Evidence considered

SpliceAI delta=0 suggests no splice alteration
but no experimental functional studies exist to satisfy BS3.

Still missing

No variant-specific functional assays demonstrating no damaging effect.

Sources

spliceai ↗

Not assessed · 9 · no assessment recorded

PS2 No de novo data are available for this variant. No publications or case records document a confirmed de novo occurrence of NM_000455.5:c.249G>A. Details ▾Hide ▴

Still missing

No de novo testing data or confirmed de novo reports available.

PS4 No case-control or cohort data are available to assess variant prevalence in affected individuals versus controls. The publications associated with this variant through ClinVar are clinical guidelines and policy statements, not variant-specific observational studies. Details ▾Hide ▴

Evidence considered

ClinVar-associated publications are guidelines and policy statements without variant-level case data.

Still missing

No variant-specific case-control or cohort studies identified.

PM6 No confirmed de novo occurrence of NM_000455.5:c.249G>A has been reported in the literature or ClinVar submissions. PM6 cannot be assessed without a documented de novo report. Details ▾Hide ▴

Still missing

No de novo reports available for this variant.

PP1 No segregation data are available for NM_000455.5:c.249G>A. No publications or case records document co-segregation of this variant with disease in affected family members. Details ▾Hide ▴

Still missing

No family segregation studies identified.

PP4 No patient phenotype or clinical data are available in this case to assess whether the proband's phenotype is specific for STK11-associated disease (Peutz-Jeghers syndrome). Details ▾Hide ▴

Still missing

No proband clinical phenotype provided.

BS2 No data are available regarding observation of NM_000455.5:c.249G>A in healthy adults with full penetrance expected. While gnomAD contains population data, the age and phenotype of carriers are unknown. Details ▾Hide ▴

Still missing

No phenotype data for gnomAD carriers
penetrance expectations not verifiable without clinical context.

BS4 No segregation data are available for NM_000455.5:c.249G>A. BS4 requires lack of segregation in affected family members, which cannot be evaluated without family studies. Details ▾Hide ▴

Still missing

No family segregation data available.

BP2 No data are available regarding observation of NM_000455.5:c.249G>A in trans with a pathogenic STK11 variant. STK11-associated Peutz-Jeghers syndrome is autosomal dominant, making in trans observation less informative, but the data are unavailable in any case. Details ▾Hide ▴

Still missing

No data on in trans observation with a pathogenic variant.

BP5 No data are available regarding an alternative molecular cause of disease in the proband. BP5 cannot be assessed without clinical context indicating a different established cause for the phenotype. Details ▾Hide ▴

Still missing

No alternative molecular etiology data available.

Not applicable · 10· recorded as not applicable Show reasons ▾Hide reasons ▴

PVS1 N/ANM_000455.5:c.249G>A is a synonymous variant (p.Lys83=) with SpliceAI max delta score of 0.00. It does not fall into the PVS1 null-variant buckets of nonsense, frameshift, or canonical ±1,2 splice consensus variants. The generic PVS1 framework is not applicable. Details ▾Hide ▴

Evidence considered

Synonymous substitution with no predicted splice impact
variant classified as 'other' in PVS1 bucket assignment.

Sources

pvs1_variant_assessmentspliceai ↗

PS1 N/AThis is a synonymous variant (p.Lys83=) with no amino acid change. PS1 requires the same amino acid change as a previously established pathogenic variant; there is no amino acid change to compare. Details ▾Hide ▴

Evidence considered

Synonymous variant produces no amino acid change.

PM1 N/ANM_000455.5:c.249G>A is a synonymous variant (p.Lys83=) and does not alter the amino acid sequence. PM1 applies to variants that disrupt a critical functional domain at the protein level; a synonymous variant with no splice effect does not meet this criterion regardless of domain location. Details ▾Hide ▴

Evidence considered

SpliceAI max delta 0.00 confirms no cryptic splice alteration
synonymous change does not disrupt protein domain.

Sources

spliceai ↗

PM3 N/ASTK11-associated Peutz-Jeghers syndrome is an autosomal dominant disorder. PM3 is applicable only to recessive disorders where a variant is detected in trans with a pathogenic variant. Details ▾Hide ▴

No further detail was recorded.

PM4 N/APM4 applies to protein length changes from in-frame indels or stop-loss variants. NM_000455.5:c.249G>A is a synonymous single-nucleotide substitution that does not alter protein length. Details ▾Hide ▴

No further detail was recorded.

PM5 N/ANM_000455.5:c.249G>A is a synonymous variant producing no amino acid change (p.Lys83=). PM5 requires a different pathogenic missense change at the same residue; there is no amino acid substitution at this position to compare. Details ▾Hide ▴

Evidence considered

Synonymous variant with no amino acid change
PM5 semantics require a missense comparator at the same residue.

PP2 N/APP2 applies to missense variants in genes with a low rate of benign missense variation. NM_000455.5:c.249G>A is a synonymous variant (p.Lys83=), not a missense variant. Details ▾Hide ▴

Evidence considered

Synonymous variant does not meet PP2 missense requirement.

BP1 N/ABP1 applies to missense variants in genes where primarily truncating variants cause disease. NM_000455.5:c.249G>A is a synonymous variant, not a missense variant. Details ▾Hide ▴

Evidence considered

Synonymous variant does not meet BP1 missense requirement.

BP3 N/ABP3 applies to in-frame indels in repetitive regions. NM_000455.5:c.249G>A is a single-nucleotide substitution, not an in-frame indel. Details ▾Hide ▴

No further detail was recorded.

PS5 N/ANo evidence of a founder effect for NM_000455.5:c.249G>A. This criterion is reserved for variants with established founder mutation status in specific populations. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: STK11
Transcript: NM_000455.5
Coding (HGVS c.): NM_000455.5:c.249G>A
Protein (HGVS p.): NP_000446.1:p.(Lys83=)
GRCh38: chr19:1207162 G>A
GRCh37: chr19:1207161 G>A
ClinVar: 486990

Gene diagram

Every interpreted variant in STK11, mapped onto the exon structure of NM_000455.5. Select a row to find it on the plot.

STK11NM_000455.5

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 STK11 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 6 / 1,611,652 alleles AF 3.72e-06 · 0 homozygotes · FAF 7.9e-07

gnomAD v2.1 2 / 272,834 alleles AF 7.33e-06 · 0 homozygotes

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 3.7e-06 · 6 / 1,611,652 alleles · 0 hom · FAF 7.9e-07

Remaining individuals1 / 62,400	1.6e-05
South Asian1 / 90,692	1.1e-05
European (non-Finnish)4 / 1,178,956	3.4e-06

0 alternate alleles recorded in 7 other groups: Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, Ashkenazi Jewish, African/African American.

gnomAD v2.1

AF 7.3e-06 · 2 / 272,834 alleles · 0 hom

European (non-Finnish)2 / 124,532

1.6e-05

0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 3.72289e-06; MAF= 0.00037%, 6/1611652 alleles, homozygotes = 0) and has highest observed frequency in the Remaining individuals population (AF= 1.60256e-05; MAF= 0.00160%, 1/62400 alleles, homozygotes = 0); grpmax FAF= 7.9e-07.

gnomAD v2.1

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

SpliceAI and Pangolin

Pangolin splice lossmagnitude shown

-0.000

Pangolin splice gain

0.000

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Evidence considered

SpliceAI max delta=0.00
no in silico predictor suggests pathogenicity.

Sources

spliceai ↗

Evidence considered

SpliceAI max delta=0.00
synonymous variant with no predicted splice impact.

Sources

spliceai ↗

Evidence considered

SpliceAI max delta 0.00
REVEL/BayesDel/HCI prior not available.

Sources

spliceai ↗

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

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

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

Syngal S et al. · 2015

Clinical guideline for hereditary gastrointestinal cancer syndromes including Peutz-Jeghers syndrome. Discusses STK11 as the causative gene but does not mention NM_000455.5:c.249G>A or any specific STK11 variants.
Does not name this variant
PMID 25645574 ↗
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 standards and guidelines for sequence variant interpretation. Provides the classification framework but does not discuss STK11 or any specific variant. This paper serves as the methodological basis for the generic ACMG framework used in this assessment.
Does not name this variant
PMID 25741868 ↗
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. · 2015

ACMG/NSGC practice guideline on referral indications for cancer predisposition assessment. Discusses hereditary cancer syndromes at the clinical practice level without reporting specific variants.
Does not name this variant
PMID 25394175 ↗
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.

PDQ Cancer Genetics Editorial Board · 2002

PDQ cancer genetics risk assessment summary. Discusses cancer genetic counseling at a general educational level without reporting individual variants.
Does not name this variant
PMID 26389258 ↗
Genetics of Colorectal Cancer (PDQ®): Health Professional Version.

PDQ Cancer Genetics Editorial Board · 2002

PDQ genetics of colorectal cancer summary. Provides general background on hereditary colorectal cancer syndromes including Peutz-Jeghers syndrome but does not report individual STK11 variants.
Does not name this variant
PMID 26389505 ↗
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Kalia SS et al. · 2017

ACMG secondary findings recommendations (SF v2.0). Lists STK11 as a gene for which pathogenic/expected pathogenic variants should be reported as secondary findings. Does not discuss NM_000455.5:c.249G>A.
Does not name this variant
PMID 27854360 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Sherloc refinement of ACMG-AMP variant classification criteria. Provides an alternative classification framework but does not discuss STK11 or NM_000455.5:c.249G>A.
Does not name this variant
PMID 28492532 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 6 / 1,611,652 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 Likely 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 ↗

All source links

Statements for reports

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

gnomAD v4.1

gnomAD v2.1

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

ClinVar

This variant has been reported in ClinVar as Likely benign (3 clinical laboratories) and as Likely Benign (1 clinical laboratory) and as Benign (1 clinical laboratory). (ClinVarID = 486990)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

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.