PRPF8c.6854-4G>ABenign

Print report

Variant interpretation report

PRPF8 c.6854-4G>A, p.?

NM_006445.3:c.6854-4G>A NP_006436.3:p.? View identifiers

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.

About PRPF8

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 stand alone (benign) · 2 strong (benign) · 2 supporting (benign)
Expert rules: Not recorded
Other laboratories (ClinVar): 3 Benign
Pipeline record: 2 Aug 2026 · version 7.0.4

Evidence considered

View criteria

Applied evidence criteria

BA1 (stand alone): This variant has an allele frequency of 4.72% in the African/African American population in gnomAD v2.1 (1177/24962 alleles, 32 homozygotes) and 4.79% in gnomAD v4.1 (3597/75018 alleles, 85 homozygotes), far exceeding the 1% threshold for BA1. This population frequency is incompatible with a rare Mendelian disorder such as PRPF8-associated retinitis pigmentosa.
BS1 (strong): This variant has an overall allele frequency of 0.45% in gnomAD v2.1 (1280/282218 alleles) and 0.25% in gnomAD v4.1, exceeding the 0.3% BS1 threshold. This frequency is too high for a causative variant in PRPF8-associated retinitis pigmentosa. Note: BA1 (stand-alone benign) is also met based on the African subpopulation frequency; BS1 is met independently at the overall population level.
BS2 (strong): This variant has been observed in the homozygous state in 32 individuals in gnomAD v2.1 and 87 individuals in gnomAD v4.1. Observation in healthy homozygous adults is inconsistent with a fully penetrant dominant disorder such as PRPF8-associated retinitis pigmentosa.
BP4 (supporting): SpliceAI predicts no splicing impact (max delta score = 0.00) for this intronic variant located 4 bases upstream of exon 43. Multiple in silico tools concordantly predict no deleterious effect.
BP6 (supporting): ClinVar reports this variant as Benign from three independent clinical laboratories (Illumina, ARUP, and Labcorp/Invitae). While not meeting the 3-star expert panel threshold, the consensus among multiple clinical testing laboratories supports a benign interpretation.

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: 5

Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 5

BA1Stand alone

BA1 · stand alone

This variant has an allele frequency of 4.72% in the African/African American population in gnomAD v2.1 (1177/24962 alleles, 32 homozygotes) and 4.79% in gnomAD v4.1 (3597/75018 alleles, 85 homozygotes), far exceeding the 1% threshold for BA1. This population frequency is incompatible with a rare Mendelian disorder such as PRPF8-associated retinitis pigmentosa.

BS1Strong

BS1 · strong

This variant has an overall allele frequency of 0.45% in gnomAD v2.1 (1280/282218 alleles) and 0.25% in gnomAD v4.1, exceeding the 0.3% BS1 threshold. This frequency is too high for a causative variant in PRPF8-associated retinitis pigmentosa. Note: BA1 (stand-alone benign) is also met based on the African subpopulation frequency; BS1 is met independently at the overall population level.

BS2Strong

BS2 · strong

This variant has been observed in the homozygous state in 32 individuals in gnomAD v2.1 and 87 individuals in gnomAD v4.1. Observation in healthy homozygous adults is inconsistent with a fully penetrant dominant disorder such as PRPF8-associated retinitis pigmentosa.

BP4Supporting

BP4 · supporting

SpliceAI predicts no splicing impact (max delta score = 0.00) for this intronic variant located 4 bases upstream of exon 43. Multiple in silico tools concordantly predict no deleterious effect.

BP6Supporting

BP6 · supporting

ClinVar reports this variant as Benign from three independent clinical laboratories (Illumina, ARUP, and Labcorp/Invitae). While not meeting the 3-star expert panel threshold, the consensus among multiple clinical testing laboratories supports a benign interpretation.

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: BA1 stand-alone benign, BS1 strong benign, BS2 strong benign, BP4 supporting benign, BP6 supporting benign; combination = 1 stand-alone benign + 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

4,069 / 1,614,148 alleles

gnomAD v4.1: 4,069 / 1,614,148 alleles. Recorded AF 0.00252083. Recorded homozygote count 87.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 0.0045355; MAF= 0.45355%, 1280/282218 alleles, homozygotes = 32) and has highest observed frequency in the African/African American population (AF= 0.0471517; MAF= 4.71517%, 1177/24962 alleles, homozygotes = 32); grpmax FAF= 0.0447737.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.002551851449668802, 47/18418 alleles, homozygotes = 0).

Applied · BA1, BS1, BS2 →

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 → SpliceAI ↗

ClinVar submissions

3 reported laboratory submissions

3 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

Applied · BP6 → ClinVar ↗

No screenshot for this evidence

Functional evidence

Not recorded

No standalone functional evidence summary is recorded in evidence_summary.functional.

No listed criterion applied OncoKB ↗

Somatic evidence

No matching record reported

This variant has not previously been reported in somatic cancers (COSMIC).

Context only COSMIC ↗

For specialists

Technical detail

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

27 criteria with recorded statuses: 5 met · 16 not met · 0 not assessed · 6 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 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_006445.3:c.6854-4G>A is classified as Benign.

This variant meets BA1 (stand-alone benign): allele frequency of 4.7% in the African/African American population in gnomAD (1177/24962 alleles, 32 homozygotes in v2.1; 3597/75018 alleles, 85 homozygotes in v4.1), far exceeding the 1% threshold and incompatible with a rare Mendelian disorder.

This variant also meets BS1 (strong benign) at the overall population level with an allele frequency of 0.45% in gnomAD v2.1, exceeding the 0.3% threshold.

This variant meets BS2 (strong benign): observed in 32 homozygous individuals in gnomAD v2.1 and 87 in v4.1, incompatible with a fully penetrant autosomal dominant retinal dystrophy.

SpliceAI predicts no splicing impact (max delta = 0.00), supporting BP4 (supporting benign).

ClinVar reports this variant as Benign from three independent clinical laboratories, supporting BP6 (supporting benign).

BA1 alone is sufficient for a Benign classification per the generic ACMG/AMP 2015 combination rules. Additional benign criteria (BS1, BS2, BP4, BP6) provide further confirmatory evidence.

Met · 5

BA1 Stand aloneThis variant has an allele frequency of 4.72% in the African/African American population in gnomAD v2.1 (1177/24962 alleles, 32 homozygotes) and 4.79% in gnomAD v4.1 (3597/75018 alleles, 85 homozygotes), far exceeding the 1% threshold for BA1. This population frequency is incompatible with a rare Mendelian disorder such as PRPF8-associated retinitis pigmentosa. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 African/African American AF = 4.72% (1177/24962 alleles
32 homozygotes)
gnomAD v4.1 African/African American AF = 4.79% (3597/75018 alleles
85 homozygotes)
grpmax FAF v2.1 = 0.0448
v4.1 = 0.0466
Far exceeds 1% BA1 threshold defined for generic ACMG non-VCEP adjudication

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 StrongThis variant has an overall allele frequency of 0.45% in gnomAD v2.1 (1280/282218 alleles) and 0.25% in gnomAD v4.1, exceeding the 0.3% BS1 threshold. This frequency is too high for a causative variant in PRPF8-associated retinitis pigmentosa. Note: BA1 (stand-alone benign) is also met based on the African subpopulation frequency; BS1 is met independently at the overall population level. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 overall AF = 0.45% (1280/282218 alleles)
gnomAD v4.1 overall AF = 0.25% (4069/1614148 alleles)
Exceeds 0.3% BS1 threshold defined for generic ACMG non-VCEP adjudication

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS2 StrongThis variant has been observed in the homozygous state in 32 individuals in gnomAD v2.1 and 87 individuals in gnomAD v4.1. Observation in healthy homozygous adults is inconsistent with a fully penetrant dominant disorder such as PRPF8-associated retinitis pigmentosa. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 32 homozygotes observed
gnomAD v4.1: 87 homozygotes observed
Homozygous state incompatible with a fully penetrant autosomal dominant retinal dystrophy

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP4 SupportingSpliceAI predicts no splicing impact (max delta score = 0.00) for this intronic variant located 4 bases upstream of exon 43. Multiple in silico tools concordantly predict no deleterious effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.00 — no predicted donor/acceptor gain or loss
Located at c.6854-4
outside the canonical splice consensus
with no predicted splicing alteration

Sources

spliceai ↗

BP6 SupportingClinVar reports this variant as Benign from three independent clinical laboratories (Illumina, ARUP, and Labcorp/Invitae). While not meeting the 3-star expert panel threshold, the consensus among multiple clinical testing laboratories supports a benign interpretation. Details ▾Hide ▴

Evidence considered

ClinVar Variation ID: 321870
classification: Benign
3 clinical laboratories concur (Illumina
ARUP
Labcorp/Invitae)
Review status: criteria provided
single submitter (1-star)

Sources

clinvar ↗

Not met · 16 · evaluated, threshold not reached

PVS1 NM_006445.3:c.6854-4G>A is an intronic variant located 4 bases upstream of exon 43. It does not affect the canonical splice consensus (±1,2), SpliceAI predicts no splicing impact (max delta = 0.00), and the variant does not fall into a default PVS1 null-variant bucket. The generic PVS1 framework does not apply. Details ▾Hide ▴

Evidence considered

Intronic variant at c.6854-4
outside canonical ±1
2 splice consensus
SpliceAI max delta score = 0.00
no predicted splicing impact
Variant bucket = 'other' per PVS1 variant assessment
generic PVS1 framework not applicable

Sources

pvs1_generic_framework ↗pvs1_variant_assessmentspliceai ↗

PS2 No de novo observation has been reported for NM_006445.3:c.6854-4G>A in any reviewed publication or database submission. Details ▾Hide ▴

Still missing

No de novo data available

PS3 No functional data exists for NM_006445.3:c.6854-4G>A or a systematically characterized range that includes this variant. The variant has not been directly tested in any experimental assay, and no publication reviewed contains functional evidence for this intronic substitution. Details ▾Hide ▴

Evidence considered

No variant-specific functional studies identified in literature
SpliceAI max delta = 0.00 indicates no predicted splicing defect
but this is in silico prediction
not experimental functional evidence

Still missing

No experimental functional data available for this variant

PS4 This variant is common in population databases (gnomAD overall AF = 0.45%, African AF = 4.7%), which is incompatible with the prevalence of PRPF8-associated retinitis pigmentosa. No case-control enrichment in affected individuals has been demonstrated. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 1280/282218 alleles (0.45%)
32 homozygotes
gnomAD v4.1: 4069/1614148 alleles (0.25%)
87 homozygotes
African/African American AF = 4.7% (v2.1)
far too common for a rare Mendelian disease

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM1 Located in a region with substantial benign variation in population databases (AF = 4.7% in African population, 32 homozygotes in gnomAD). A mutational hotspot or critical functional domain cannot be invoked when the region tolerates high-frequency benign variation. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 32 homozygotes
AF = 4.7% in African population
High frequency of benign variation at this locus precludes PM1 application

Sources

gnomad_v2 ↗

PM2 This variant is present in gnomAD at an overall allele frequency of 0.45%, far above the 0.1% threshold for PM2 in the generic ACMG framework. It is a common polymorphism, not a rare variant absent from population databases. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 AF = 0.45% (1280/282218 alleles)
gnomAD v4.1 AF = 0.25% (4069/1614148 alleles)
Well above PM2 threshold of <0.1%

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM6 No de novo observation has been reported for this variant in any reviewed source. PM6 requires a confirmed de novo occurrence with or without paternity/maternity confirmation. Details ▾Hide ▴

Still missing

No de novo data available

PP1 No cosegregation data has been reported for NM_006445.3:c.6854-4G>A in any family. No publication or ClinVar submission contains segregation analysis for this variant. Details ▾Hide ▴

Still missing

No cosegregation data available

PP3 Multiple lines of in silico evidence predict no pathogenic effect. SpliceAI predicts no splicing impact (max delta = 0.00). REVEL and BayesDel scores are not available for this intronic variant. No computational tool supports a deleterious effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.00 (no predicted splice alteration)
REVEL and BayesDel not computed for intronic variants

Sources

spliceai ↗

PP4 No patient phenotype data specific to this variant has been reported. PP4 requires that the variant be identified in a patient whose phenotype is highly specific for the gene/disease. Details ▾Hide ▴

Still missing

No patient phenotype data available

PP5 ClinVar classifies this variant as Benign (3 clinical laboratories). No reputable source has reported it as pathogenic. PP5 requires a reputable source to report the variant as pathogenic with unavailable supporting evidence. Details ▾Hide ▴

Evidence considered

ClinVar classification: Benign (Variation ID: 321870)
Review status: criteria provided
single submitter (1-star)

Sources

clinvar ↗

BS3 No well-established in vitro or in vivo functional study has directly assessed the effect of NM_006445.3:c.6854-4G>A. While SpliceAI predicts no splicing impact (max delta = 0.00), this is in silico evidence (BP4), not experimental functional data required for BS3. Details ▾Hide ▴

Evidence considered

No experimental functional studies of this variant identified

Still missing

No experimental functional data available

BS4 No nonsegregation data has been reported for this variant. BS4 requires the variant to be observed in trans or to fail to segregate with disease in affected families. Details ▾Hide ▴

Still missing

No nonsegregation data available

BP2 No observation of this variant in trans with a known pathogenic PRPF8 variant has been reported. BP2 requires the variant to be observed in cis or in trans with a pathogenic variant in a recessive disorder, or in trans with a pathogenic variant for a fully penetrant dominant disorder. Details ▾Hide ▴

Still missing

No phase data available

BP5 No case has been reported where NM_006445.3:c.6854-4G>A was found in a patient with an alternative molecular basis for disease. BP5 requires the variant to be observed in a case with an alternate established pathogenic cause. Details ▾Hide ▴

Still missing

No alternate molecular cause data available

PS5 ClinVar classifies this variant as Benign, not Pathogenic. No reputable source has reported this variant as pathogenic. Details ▾Hide ▴

Evidence considered

ClinVar classification: Benign (Variation ID: 321870)
3 clinical laboratories concur on Benign classification

Sources

clinvar ↗

Not applicable · 6· recorded as not applicable Show reasons ▾Hide reasons ▴

PS1 N/AIntronic variant with no predicted protein change; PS1 applies only to variants producing the same amino acid change as an established pathogenic variant. Details ▾Hide ▴

No further detail was recorded.

PM5 N/AIntronic variant with no predicted amino acid residue; PM5 requires a different pathogenic missense change at the same residue, which is not applicable for non-coding variants. Details ▾Hide ▴

Sources

pm5_candidates

PP2 N/APP2 applies to missense variants in genes with a low rate of benign missense variation. This is an intronic substitution, not a missense variant. Details ▾Hide ▴

No further detail was recorded.

BP1 N/ABP1 applies to missense variants in genes where only truncating variants cause disease. This is an intronic substitution, not a missense variant. Details ▾Hide ▴

No further detail was recorded.

BP3 N/ASkipped per instruction. This is a substitution variant, not an in-frame indel in a repetitive region. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is an intronic variant (c.6854-4G>A), not a synonymous coding variant. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: PRPF8
Transcript: NM_006445.3
Coding (HGVS c.): NM_006445.3:c.6854-4G>A
Protein (HGVS p.): NP_006436.3:p.?
GRCh38: chr17:1650960 C>T
GRCh37: chr17:1554254 C>T
ClinVar: 321870

Gene diagram

Every interpreted variant in PRPF8, mapped onto the exon structure of NM_006445.3. Select a row to find it on the plot.

PRPF8NM_006445.3

Fetching transcript structure from UCSC…

Exons

—

Transcript span

—

Strand

—

Variants mapped

—

Source

UCSC ncbiRefSeqCurated

All variants in PRPF8 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 4,069 / 1,614,148 alleles AF 0.00252 · 87 homozygotes · FAF 0.0466

gnomAD v2.1 1,280 / 282,218 alleles AF 0.00454 · 32 homozygotes · FAF 0.0448

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 0.0025 · 4069 / 1,614,148 alleles · 87 hom · FAF 0.047

African/African American3597 / 75,018	0.04885 hom
Middle Eastern20 / 6,060	0.0033
Remaining individuals191 / 62,498	0.00312 hom
Admixed American173 / 60,026	0.0029
South Asian19 / 91,082	0.00021
East Asian6 / 44,882	0.00013
European (non-Finnish)63 / 1,180,038	5.3e-05

0 alternate alleles recorded in 3 other groups: European (Finnish), Amish, Ashkenazi Jewish.

gnomAD v2.1

AF 0.0045 · 1280 / 282,218 alleles · 32 hom · FAF 0.045

African/African American1177 / 24,962	0.04732 hom
Admixed American76 / 35,440	0.0021
Remaining individuals10 / 7,224	0.0014
South Asian5 / 30,616	0.00016
East Asian3 / 19,952	0.00015
European (non-Finnish)9 / 128,552	7e-05

0 alternate alleles recorded in 2 other groups: Ashkenazi Jewish, European (Finnish).

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.00252083; MAF= 0.25208%, 4069/1614148 alleles, homozygotes = 87) and has highest observed frequency in the African/African American population (AF= 0.0479485; MAF= 4.79485%, 3597/75018 alleles, homozygotes = 85); grpmax FAF= 0.0466408.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.002551851449668802, 47/18418 alleles, homozygotes = 0).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

Pangolin splice lossmagnitude shown

-0.020

Pangolin splice gain

0.010

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Evidence considered

SpliceAI max delta = 0.00 — no predicted donor/acceptor gain or loss
Located at c.6854-4
outside the canonical splice consensus
with no predicted splicing alteration

Sources

spliceai ↗

Evidence considered

SpliceAI max delta = 0.00 (no predicted splice alteration)
REVEL and BayesDel not computed for intronic variants

Sources

spliceai ↗

BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is an intronic variant (c.6854-4G>A), not a synonymous coding variant. Details ▾Hide ▴

No further detail was recorded.

Statement

In silico

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

5 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

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. · 2015

Standards and guidelines for the interpretation of sequence variants (ACMG/AMP 2015). This paper defines the generic ACMG/AMP classification framework used for this adjudication. NM_006445.3:c.6854-4G>A is not mentioned.
Does not name this variant
PMID 25741868 ↗
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.

Bakondi B et al. · 2016

Reports in vivo CRISPR/Cas9 gene editing to correct retinal dystrophy in the S334ter rat model of autosomal dominant retinitis pigmentosa caused by RHO mutations. This study concerns the rhodopsin (RHO) gene, not PRPF8. NM_006445.3:c.6854-4G>A is not mentioned.
Does not name this variant
PMID 26666451 ↗
Nonsyndromic Retinitis Pigmentosa Overview.

Adam MP et al. · 1993

GeneReviews overview of nonsyndromic retinitis pigmentosa. This is a clinical summary of RP genes including PRPF8. The specific variant NM_006445.3:c.6854-4G>A was not identified in the available metadata; full text was not available for direct confirmation.
Does not name this variant
PMID 20301590 ↗
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC et al. · 2012

Clinical utility gene card for BEST1-related dystrophies (bestrophinopathies). This paper discusses BEST1 mutations and phenotypes. PRPF8 and NM_006445.3:c.6854-4G>A are not mentioned — the paper concerns a different gene entirely.
Does not name this variant
PMID 22234150 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K et al. · 2017

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. A framework methodology paper describing variant classification refinements. NM_006445.3:c.6854-4G>A is not mentioned.
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 4,069 / 1,614,148 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 Benign Open source ↗

COSMIC Captured COSMIC 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

This variant is present in gnomAD-Canada v1.0 (AF= 0.002551851449668802, 47/18418 alleles, homozygotes = 0).

ClinVar

This variant has been reported in ClinVar as Benign (3 clinical laboratories). (ClinVarID = 321870)

In silico

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

Somatic

This variant has not previously been reported in somatic cancers (COSMIC).