NF1c.6084+8C>GBenign

Print report

Variant interpretation report

NF1 c.6084+8C>G, p.?

NM_000267.3:c.6084+8C>G NP_000258.1: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 NF1

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 stand alone (benign) · 1 strong (benign) · 2 supporting (benign)
Expert rules: ClinGen NF1 VCEP v1.0.0
Other laboratories (ClinVar): 11 Benign · 9 Likely benign · 1 benign
Pipeline record: 26 Jun 2026 · version 7.0.0

Evidence considered

View criteria

Applied evidence criteria

BA1 (stand alone): The variant has an allele frequency of 1.425% (13/912 alleles) in the Amish subpopulation in gnomAD v4.1, exceeding the 1% BA1 threshold. Additionally, 13 homozygotes are observed in gnomAD v4.1, which is incompatible with a highly penetrant autosomal dominant disorder such as NF1.
BS1 (strong): The variant is present at an allele frequency of 1.425% in the Amish subpopulation of gnomAD v4.1, far exceeding the 0.3% BS1 threshold for a dominant disorder with NF1 prevalence (~1/3,000). The overall gnomAD v4.1 frequency of 0.29% also approaches this threshold.
BP4 (supporting): Multiple lines of computational evidence indicate no impact on splicing or gene function. SpliceAI predicts no splicing alteration (max delta score = 0.00). The variant is located deep within intron 40 at the +8 position, away from the canonical splice donor site.
BP6 (supporting): ClinVar reports this variant as Benign based on 22 submissions from multiple clinical laboratories (11 Benign, 9 Likely benign, 1 benign), though without expert panel review. Multiple independent clinical laboratories concur on a benign classification.

LYFE Sciences is an AI system, and it can make mistakes. Criteria may be applied incorrectly, sources may be misread, and a confident-looking classification can still be wrong. Double-check every criterion and its underlying evidence before relying on any call.

01The reasoning

How it was classified

The recorded framework is ClinGen NF1 VCEP v1.0.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.

Recorded applied criteria

The applied criteria and their strengths are shown as assessed under the stated framework.

Pathogenic evidence criteria: 0 Benign evidence criteria: 4

Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 4

BA1Stand alone

BA1 · stand alone

The variant has an allele frequency of 1.425% (13/912 alleles) in the Amish subpopulation in gnomAD v4.1, exceeding the 1% BA1 threshold. Additionally, 13 homozygotes are observed in gnomAD v4.1, which is incompatible with a highly penetrant autosomal dominant disorder such as NF1.

BS1Strong

BS1 · strong

The variant is present at an allele frequency of 1.425% in the Amish subpopulation of gnomAD v4.1, far exceeding the 0.3% BS1 threshold for a dominant disorder with NF1 prevalence (~1/3,000). The overall gnomAD v4.1 frequency of 0.29% also approaches this threshold.

BP4Supporting

BP4 · supporting

Multiple lines of computational evidence indicate no impact on splicing or gene function. SpliceAI predicts no splicing alteration (max delta score = 0.00). The variant is located deep within intron 40 at the +8 position, away from the canonical splice donor site.

BP6Supporting

BP6 · supporting

ClinVar reports this variant as Benign based on 22 submissions from multiple clinical laboratories (11 Benign, 9 Likely benign, 1 benign), though without expert panel review. Multiple independent clinical laboratories concur on a benign classification.

Recorded classification: Benign

Neurofibromatosis and Schwannomatosis Specification v1.0.0 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, BP4 supporting benign, BP6 supporting benign; combination = 1 stand-alone benign + 1 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

4,673 / 1,613,910 alleles

gnomAD v4.1: 4,673 / 1,613,910 alleles. Recorded AF 0.00289545. Recorded homozygote count 13.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 0.00141824; MAF= 0.14182%, 401/282744 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 0.002696; MAF= 0.26960%, 348/129080 alleles, homozygotes = 0); grpmax FAF= 0.00247691.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.002500815483309775, 46/18394 alleles, homozygotes = 0).

Applied · BA1, BS1 →

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

21 reported laboratory submissions

11 Benign · 9 Likely benign · 1 benign.

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 ClinGen NF1 VCEP v1.0.0, with the data and sources behind each one.

27 criteria with recorded statuses: 4 met · 12 not met · 1 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 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_000267.3:c.6084+8C>G is classified as Benign.

BA1 is met at stand-alone benign strength: the variant has an allele frequency of 1.43% in the Amish subpopulation of gnomAD v4.1, exceeding the >1% BA1 threshold for a highly penetrant autosomal dominant disorder (NF1 prevalence ~1/3,000). Thirteen homozygous individuals are observed in gnomAD v4.1, which is incompatible with a pathogenic NF1 variant.

BS1 is met at strong benign strength: the variant allele frequency of 1.43% (Amish subpopulation) far exceeds the 0.3% threshold for a dominant disorder.

BP4 is met at supporting benign strength: SpliceAI predicts no splice impact (max delta = 0.00), and the variant is located at the +8 intronic position, distant from the canonical splice donor site.

BP6 is met at supporting benign strength: ClinVar reports this variant as Benign based on 22 independent clinical laboratory submissions (11 Benign, 9 Likely benign, 1 benign).

BA1 is stand-alone benign. Per ACMG/AMP 2015 combination rules (Richards et al., PMID:25741868), a single BA1 criterion is sufficient for a Benign classification. The final classification is Benign.

Met · 4

BA1 Stand aloneThe variant has an allele frequency of 1.425% (13/912 alleles) in the Amish subpopulation in gnomAD v4.1, exceeding the 1% BA1 threshold. Additionally, 13 homozygotes are observed in gnomAD v4.1, which is incompatible with a highly penetrant autosomal dominant disorder such as NF1. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 Amish subpopulation AF=1.425% (13/912 alleles) exceeds BA1 threshold of >1%
13 homozygous individuals observed in gnomAD v4.1 overall. NF1 is an autosomal dominant disorder with near-complete penetrance
homozygosity for a pathogenic variant would be incompatible with life or result in exceptionally severe phenotype not seen in population databases.

Sources

gnomad_v4 ↗

BS1 StrongThe variant is present at an allele frequency of 1.425% in the Amish subpopulation of gnomAD v4.1, far exceeding the 0.3% BS1 threshold for a dominant disorder with NF1 prevalence (~1/3,000). The overall gnomAD v4.1 frequency of 0.29% also approaches this threshold. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 Amish subpopulation AF=1.425% exceeds BS1 threshold of >0.3%. gnomAD v2.1 NFE AF=0.27%. Overall v4.1 AF=0.29% with 13 homozygotes. Population frequency incompatible with NF1 pathogenicity.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP4 SupportingMultiple lines of computational evidence indicate no impact on splicing or gene function. SpliceAI predicts no splicing alteration (max delta score = 0.00). The variant is located deep within intron 40 at the +8 position, away from the canonical splice donor site. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.00 (no predicted donor loss
donor gain
acceptor loss
or acceptor gain). REVEL and BayesDel not applicable (intronic variant). The +8 intronic position is outside the highly conserved splice donor region.

Sources

spliceai ↗

BP6 SupportingClinVar reports this variant as Benign based on 22 submissions from multiple clinical laboratories (11 Benign, 9 Likely benign, 1 benign), though without expert panel review. Multiple independent clinical laboratories concur on a benign classification. Details ▾Hide ▴

Evidence considered

ClinVar Variation ID 215465: Benign
22 submissions. Multiple independent clinical testing laboratories (GeneDx
LabCorp
ARUP
Mayo Clinic
Invitae
Ambry
Illumina
and others) classify as Benign or Likely benign.

Still missing

No expert panel review
all submissions are 'criteria provided
single submitter' or lower.

Sources

clinvar ↗

Not met · 12 · evaluated, threshold not reached

PS2 No confirmed de novo observation of NM_000267.3:c.6084+8C>G has been reported in any reviewed publication or ClinVar submission. Details ▾Hide ▴

Evidence considered

ClinVar submissions (22 total) contain no de novo assertions for this variant.

Still missing

No de novo testing data available for this variant.

Sources

clinvar ↗

PS3 No well-established in vitro or in vivo functional studies demonstrating a damaging effect were identified. The single NF1-focused publication with full-text metadata (PMID:15060124) did not have extractable full text, and its ClinVar citation trail notes that functional studies have yet to be performed for this variant. Details ▾Hide ▴

Evidence considered

ClinVar submission SCV000919883 explicitly states functional studies have not confirmed computational predictions. No variant-specific functional assay identified in any reviewed publication.

Still missing

No variant-specific functional data available.

Sources

clinvar ↗PMID:15060124 ↗

PS4 The variant is present at high frequency in the general population (gnomAD v4.1: AF=0.29%, 4,673 alleles; Amish subpopulation AF=1.43%), precluding statistically significant case-control enrichment for a rare Mendelian disorder. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 401/282
744 alleles (0.14%)
gnomAD v4.1: 4
673/1
613
910 alleles (0.29%) with 13 homozygotes. Population frequency far exceeds expected pathogenic allele frequency for NF1 (AD
prevalence ~1/3
000).

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM2 The variant is present in population databases at appreciable frequency (gnomAD v4.1: AF=0.29%, 4,673 alleles), far exceeding the PM2 threshold of <0.1%. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 AF=0.14% (401/282
744)
gnomAD v4.1 AF=0.29% (4
673/1
613
910)
both exceed PM2 cutoff of <0.1%.

Sources

gnomad_v2 ↗gnomad_v4 ↗

PP1 No segregation data are available for this variant in any reviewed publication or ClinVar submission. Details ▾Hide ▴

Evidence considered

No co-segregation studies identified.

Still missing

No family segregation data available.

PP3 Multiple lines of computational evidence support no splice impact. SpliceAI predicts no significant splicing alteration (max delta score = 0.00). REVEL and BayesDel are not applicable as this is an intronic variant. No in silico tools predict a deleterious effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.00 (no predicted splice impact)
REVEL/BayesDel not applicable (intronic). Multiple computational lines suggest no functional consequence.

Sources

spliceai ↗

PP4 No patient-specific phenotype data are available for this variant. No case reports were identified describing affected individuals with this variant and a phenotype highly specific for NF1. Details ▾Hide ▴

Evidence considered

No case-level phenotype data identified.

Still missing

No phenotype data available for variant carriers.

PP5 ClinVar reports this variant as Benign (22 submissions: 11 Benign, 9 Likely benign, 1 benign). No reputable source has classified this variant as pathogenic. No expert panel has reviewed this variant. Details ▾Hide ▴

Evidence considered

ClinVar classification: Benign (Variation ID 215465)
review status: criteria provided
single submitter. No expert panel classification. Multiple clinical laboratories concur on benign/likely benign.

Sources

clinvar ↗

BS3 No well-established functional studies demonstrating no damaging effect were identified. SpliceAI (delta=0.00) predicts no splice impact, but in silico prediction alone does not constitute well-established functional evidence required for BS3. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.00 suggests no splice alteration
but this is computational prediction
not functional assay data.

Still missing

No variant-specific functional assay data (e.g.
RNA studies
minigene splicing assays) available.

Sources

spliceai ↗

BS4 No segregation data are available. Lack of segregation in affected family members cannot be assessed. Details ▾Hide ▴

Evidence considered

No family segregation studies identified.

Still missing

No segregation data available.

BP2 No observation of this variant in trans with a known pathogenic NF1 variant has been reported. Details ▾Hide ▴

Evidence considered

No phase data available for this variant.

Still missing

No co-occurrence/phase data available.

BP5 No case has been reported where this variant is found in an individual with an alternative molecular basis for NF1-related disease. Details ▾Hide ▴

Evidence considered

No alternative molecular diagnosis data available.

Still missing

No co-occurrence with alternate molecular diagnosis data.

Not assessed · 1 · no assessment recorded

BS2 No confirmed healthy adult individuals with this variant have been reported with documented unaffected status. While gnomAD contains 13 homozygotes, gnomAD does not provide individual-level phenotype confirmation, so definitive healthy status cannot be assigned from population data alone for BS2. Details ▾Hide ▴

Evidence considered

13 homozygotes in gnomAD v4.1 suggest benign impact but lack confirmed healthy phenotype annotation for BS2 application.

Still missing

No individual-level healthy adult phenotype data available.

Sources

gnomad_v4 ↗

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

PVS1 N/AThis intronic variant (c.6084+8C>G, +8 position in intron 40) does not fall into any null-variant bucket (nonsense, frameshift, canonical ±1,2 splice consensus, initiation codon, or exon deletion). No protein change is predicted. Details ▾Hide ▴

Evidence considered

Intronic variant at +8 position
not a null variant per ClinGen SVI PVS1 decision tree (PMC6185798).

Sources

pvs1_generic_framework ↗

PS1 N/AThis is an intronic variant with no amino acid change; same-amino-acid comparator analysis is not applicable. Details ▾Hide ▴

Evidence considered

Intronic variant
no protein-level comparison possible.

PM1 N/AThis is an intronic variant with no protein residue; mutational hotspot domain analysis is not applicable. Details ▾Hide ▴

Evidence considered

Intronic variant
no protein domain localization possible.

PM5 N/AThis intronic variant produces no protein change; same-residue comparator analysis is not possible. Confirmed by pm5_candidates.json: unable to parse missense residue context. Details ▾Hide ▴

Evidence considered

No protein residue to compare
variant is intronic (+8 position).

Sources

pm5_candidates

PM6 N/ANo de novo observation reported, and this intronic variant has no confirmed de novo status in any ClinVar submission or publication. Details ▾Hide ▴

Evidence considered

22 ClinVar submissions with no de novo assertions.

Sources

clinvar ↗

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

Evidence considered

Intronic variant
PP2 is specific to missense variants.

BP1 N/ABP1 applies to missense variants in genes where truncating variants are the primary disease mechanism. This is an intronic variant, not a missense change. Details ▾Hide ▴

Evidence considered

Intronic variant
BP1 is specific to missense variants.

BP3 N/ABP3 applies to in-frame deletions/insertions; this is a single-nucleotide intronic substitution. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous (silent) variants with no predicted splice impact. This is an intronic variant at +8, not a coding synonymous variant. Details ▾Hide ▴

Evidence considered

Intronic variant
BP7 is specific to exonic synonymous variants.

PS5 N/APS5 is not a criterion in the standard ACMG/AMP 2015 framework (Richards et al., PMID:25741868) and the NF1 VCEP criteria are empty with no custom PS5 specification. Details ▾Hide ▴

Evidence considered

Not a standard ACMG/AMP criterion
VCEP framework incomplete.

Sources

PMID:25741868 ↗

Identifiers

Gene: NF1
Transcript: NM_000267.3
Coding (HGVS c.): NM_000267.3:c.6084+8C>G
Protein (HGVS p.): NP_000258.1:p.?
GRCh38: chr17:31336481 C>G
GRCh37: chr17:29663499 C>G
ClinVar: 215465

Gene diagram

Every interpreted variant in NF1, mapped onto the exon structure of NM_000267.3. Select a row to find it on the plot.

NF1NM_000267.3

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 NF1 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 4,673 / 1,613,910 alleles AF 0.0029 · 13 homozygotes · FAF 0.0036

gnomAD v2.1 401 / 282,744 alleles AF 0.00142 · 0 homozygotes · FAF 0.00248

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 0.0029 · 4673 / 1,613,910 alleles · 13 hom · FAF 0.0036

Amish13 / 912	0.014
European (non-Finnish)4356 / 1,179,978	0.003712 hom
Remaining individuals198 / 62,510	0.00321 hom
African/African American49 / 74,956	0.00065
Admixed American37 / 60,010	0.00062
European (Finnish)15 / 63,974	0.00023
Ashkenazi Jewish3 / 29,604	0.0001
South Asian2 / 91,060	2.2e-05

0 alternate alleles recorded in 2 other groups: East Asian, Middle Eastern.

gnomAD v2.1

AF 0.0014 · 401 / 282,744 alleles · 0 hom · FAF 0.0025

European (non-Finnish)348 / 129,080	0.0027
Remaining individuals12 / 7,218	0.0017
African/African American16 / 24,966	0.00064
Admixed American18 / 35,436	0.00051
European (Finnish)5 / 25,114	0.0002
Ashkenazi Jewish1 / 10,368	9.6e-05
South Asian1 / 30,610	3.3e-05

0 alternate alleles recorded in 1 other group: East Asian.

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.00289545; MAF= 0.28955%, 4673/1613910 alleles, homozygotes = 13) and has highest observed frequency in the Amish population (AF= 0.0142544; MAF= 1.42544%, 13/912 alleles, homozygotes = 0); grpmax FAF= 0.00359997.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.002500815483309775, 46/18394 alleles, homozygotes = 0).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

SpliceAI acceptor lossat -141 bp

0.000

SpliceAI acceptor gainat +338 bp

0.000

SpliceAI donor lossat -256 bp

0.000

SpliceAI donor gainat +433 bp

0.000

Pangolin splice lossmagnitude shown

-0.010

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 loss
donor gain
acceptor loss
or acceptor gain). REVEL and BayesDel not applicable (intronic variant). The +8 intronic position is outside the highly conserved splice donor region.

Sources

spliceai ↗

Evidence considered

SpliceAI max delta = 0.00 (no predicted splice impact)
REVEL/BayesDel not applicable (intronic). Multiple computational lines suggest no functional consequence.

Sources

spliceai ↗

BP7 N/ABP7 applies to synonymous (silent) variants with no predicted splice impact. This is an intronic variant at +8, not a coding synonymous variant. Details ▾Hide ▴

Evidence considered

Intronic variant
BP7 is specific to exonic synonymous variants.

Statement

In silico

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

10 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

A systematic approach to assessing the clinical significance of genetic variants.

Methodology paper describing a systematic approach to variant assessment (Variant Assessment Tool, VAT) developed at the Laboratory for Molecular Medicine. Discusses general principles of variant interpretation including population frequency thresholds, segregation, and functional studies. Does not mention NF1 or any specific NF1 variant.
Does not name this variant
PMID 24033266 ↗
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 the interpretation of sequence variants (Richards et al.). Defines the five-tier classification system and criteria weighting framework. Does not mention NF1 or any specific NF1 variant. Used as the generic classification framework reference only.
Does not name this variant
PMID 25741868 ↗
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Description of a standardized DNA variant scoring system for pathogenicity assessment in Mendelian disorders developed at Quest Diagnostics. Evaluated 16,500 pathogenicity assessments on 11,894 variants from 338 genes. Does not mention NF1 or any specific NF1 variant.
Does not name this variant
PMID 26467025 ↗
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Mattocks C et al. · 2004

Automated comparative sequence analysis study reporting mutations in 89% of NF1 patients. Full text not extractable (PDF only, 329.7 KB). The metadata and title suggest this paper screened NF1 patients for mutations but no extractable text confirms whether NM_000267.3:c.6084+8C>G was specifically identified or discussed.
Does not name this variant
PMID 15060124 ↗
The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.

Chen H et al. · 2010

NANETS consensus guideline for diagnosis and management of neuroendocrine tumors (pheochromocytoma, paraganglioma, and medullary thyroid cancer). A clinical practice guideline that does not discuss NF1 variant classification.
Does not name this variant
PMID 20664475 ↗
American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.

Robson ME et al. · 2015

ASCO policy statement update on genetic and genomic testing for cancer susceptibility. A professional society policy document that does not discuss individual NF1 variants.
Does not name this variant
PMID 26324357 ↗
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

Lenders JW et al. · 2014

Endocrine Society clinical practice guideline for pheochromocytoma and paraganglioma. A clinical management guideline that does not discuss NF1 variant classification.
Does not name this variant
PMID 24893135 ↗
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Points to consider document on ethical, legal, and psychosocial implications of genetic testing in children and adolescents. An ethics and policy paper that does not discuss specific NF1 variants.
Does not name this variant
PMID 26140447 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. A variant classification framework paper that does not discuss NM_000267.3:c.6084+8C>G.
Does not name this variant
PMID 28492532 ↗
The North American Neuroendocrine Tumor Society Consensus Guidelines for Surveillance and Management of Metastatic and/or Unresectable Pheochromocytoma and Paraganglioma.

NANETS consensus guidelines for surveillance and management of metastatic and/or unresectable pheochromocytoma and paraganglioma. A clinical management guideline that does not discuss NF1 variant classification.
Does not name this variant
PMID 33939658 ↗

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

gnomAD v4.1 4,673 / 1,613,910 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 11 Benign · 9 Likely benign · 1 benign Open source ↗

COSMIC Captured COSMIC source record Open source ↗

ClinGen CSpec Captured ClinGen CSpec 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= 0.002500815483309775, 46/18394 alleles, homozygotes = 0).

ClinVar

Error retrieving ClinVar entry.

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).