ClinVar Genomic variation as it relates to human health
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
Variation ID: 354 Accession: VCV000000354.79
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q11.2 17: 31214524 (GRCh38) [ NCBI UCSC ] 17: 29541542 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 22, 2016 Feb 28, 2024 Jan 18, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001042492.3:c.1466A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001035957.1:p.Tyr489Cys missense NM_000267.3:c.1466A>G NP_000258.1:p.Tyr489Cys missense NM_001128147.3:c.1466A>G NP_001121619.1:p.Tyr489Cys missense NC_000017.11:g.31214524A>G NC_000017.10:g.29541542A>G NG_009018.1:g.124548A>G LRG_214:g.124548A>G LRG_214t1:c.1466A>G LRG_214p1:p.Tyr489Cys LRG_214t2:c.1466A>G LRG_214p2:p.Tyr489Cys P21359:p.Tyr489Cys - Protein change
- Y489C
- Other names
- -
- Canonical SPDI
- NC_000017.11:31214523:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13560 | 13967 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (15) |
criteria provided, multiple submitters, no conflicts
|
Jan 18, 2024 | RCV000000382.35 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 11, 2014 | RCV000492667.2 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jun 29, 2023 | RCV000757556.20 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 10, 2018 | RCV001009573.2 | |
Pathogenic (1) |
no assertion criteria provided
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Sep 1, 2020 | RCV001257527.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 10, 2021 | RCV001813925.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 14, 2021 | RCV002504731.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 25, 2023 | RCV003460400.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000678216.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
NF1 NM_001042492.2 exon1 p.Tyr489Cys (c.1466A>G): This variant has been reported in >10 individuals with Neurofibromatosis type 1 (NF1), including 1 individual in which this variant … (more)
NF1 NM_001042492.2 exon1 p.Tyr489Cys (c.1466A>G): This variant has been reported in >10 individuals with Neurofibromatosis type 1 (NF1), including 1 individual in which this variant was de novo (Messiaen 1999 PMID: 11258625, Ars 2000 PMID:10607834, Messiaen 2000 PMID:10862084, Bongiomo 2008 PMID:19076627, Laycock-van Spyk 2011 PMID:22155606, Ribeiro 2012 PMID:22190595, Laurito 2015 PMID:25919870, Zhang 2015 PMID:26056819). This variant segregated with disease in 2 affected family members (Ars 2000 PMID:10607834). This variant is present in 3/245628 individuals of different ethnicities in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs137854557). Please note, disease causing variants may be present in control databases at low frequencies, reflective of the general population and/or variable expressivity. This variant is present in ClinVar (Variation ID:354). Evolutionary conservation and computational predictive tools for this variant are unclear. Of note, functional studies have shown a deleterious effect of this variant, resulting in the creation of a new splice site (Messiaen 1999 PMID: 11258625, Ars 2000 PMID:10607834, Messiaen 2000 PMID:10862084). In summary, this variant is classified as pathogenic based on the data above (presence of this variant in affected probands, presence as a de novo and predicted impact to protein). (less)
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Pathogenic
(Nov 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
germline
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000781908.1
First in ClinVar: Jul 07, 2018 Last updated: Jul 07, 2018 |
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Pathogenic
(Jul 06, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885830.1
First in ClinVar: Feb 18, 2019 Last updated: Feb 18, 2019 |
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Pathogenic
(Nov 10, 2018)
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criteria provided, single submitter
Method: research
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Neurofibromatosis, type 1
Tibial pseudoarthrosis
Affected status: yes
Allele origin:
de novo
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The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
Accession: SCV001169674.1
First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Multiple Cafe-au-lait spots (present) , Tibial pseudoarthrosis (present)
Age: 0-9 years
Sex: female
Ethnicity/Population group: Han Chinese
Geographic origin: China
Testing laboratory: Hunan Children’s Hospital
Date variant was reported to submitter: 2018-09-27
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Pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440184.1
First in ClinVar: Oct 30, 2020 Last updated: Oct 30, 2020 |
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Pathogenic
(Jul 11, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000581253.3
First in ClinVar: Jul 01, 2017 Last updated: Jul 01, 2017 |
Comment:
The p.Y489C pathogenic mutation (also known as c.1466A>G), located in coding exon 13 of the NF1 gene, results from an A to G substitution at … (more)
The p.Y489C pathogenic mutation (also known as c.1466A>G), located in coding exon 13 of the NF1 gene, results from an A to G substitution at nucleotide position 1466. This is a recurrent mutation that has been detected in multiple cohorts of NF1 patients (<span style="background-color: initial;">Messiaen LM et al. Genet. Med. 1999; 1(6):248-53,<span style="background-color: initial;">Nemethova M et al. Ann. Hum. Genet. 2013 Sep; 77(5):364-79, Ko JM et al. Pediatr. Neurol. 2013 Jun; 48(6):447-53). Messiaen et al (1999) first described this mutation in 5 patients meeting NIH criteria for NF1 and demonstrated that this alteration creates a novel splice site, resulting in skipping of the last 62 nucleotides of coding exon 13 and truncation of the protein. In Nemethova et al (2013), this mutation was observed to segregate with disease in a patient meeting NIH criteria for NF1 and her twin daughters, in whom cafe au lait spots and axial/inguinal freckling were present in infancy. Functional studies performed in this study were also consistent with a splicing defect resulting in a truncated protein. Based on the available evidence, p.Y489C is classified as a pathogenic mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Oct 26, 2020)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV001478918.1
First in ClinVar: Feb 13, 2021 Last updated: Feb 13, 2021 |
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Pathogenic
(Jul 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Abnormality of the skin
Affected status: yes
Allele origin:
germline
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Kariminejad - Najmabadi Pathology & Genetics Center
Accession: SCV001755402.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002058269.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000000354, PS1_S). The variant … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000000354, PS1_S). The variant has been observed in multiple (>3) similarly affected unrelated individuals(PMID: 10607834, 10862084, 10543400, 22155606, 19076627, PS4_S). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Cafe-au-lait spot (present) , Lisch nodules (present) , Neurofibromatosis (present)
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Pathogenic
(Sep 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512199.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderate, PM6 moderate, PP2 supporting, PP4 supporting
Geographic origin: Brazil
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Pathogenic
(Mar 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002561668.1
First in ClinVar: Aug 23, 2022 Last updated: Aug 23, 2022 |
|
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Pathogenic
(May 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
de novo
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Institute of Medical Genetics, University of Zurich
Accession: SCV002569065.2
First in ClinVar: Feb 13, 2023 Last updated: Nov 11, 2023 |
|
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Pathogenic
(Dec 14, 2021)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002798755.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Suma Genomics
Accession: SCV004037037.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
Age: 20-29 years
Sex: female
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Pathogenic
(Aug 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Juvenile myelomonocytic leukemia
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004198346.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Jun 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV001476702.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2024 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals and families … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals and families with NF1. In some published literature, this variant is referred to as 1466del62. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 10543400, 11258625, and 10607834) (less)
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Pathogenic
(Jan 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140344.2
First in ClinVar: Jan 13, 2020 Last updated: Feb 03, 2020 |
|
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Pathogenic
(Dec 20, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Neurofibromatosis, type 1
Affected status: yes
Allele origin:
germline
|
Medical Genetics, University of Parma
Accession: SCV000588721.2
First in ClinVar: Aug 13, 2017 Last updated: Apr 18, 2020 |
|
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Pathogenic
(Jan 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Neurofibromatosis, type 1
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368991.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PS4,PP4,PP5.
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Pathogenic
(Apr 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001772211.4
First in ClinVar: Aug 07, 2021 Last updated: Apr 15, 2023 |
Comment:
Exonic splice site variant demonstrated to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of … (more)
Exonic splice site variant demonstrated to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease (Osborn and Upadhyaya, 1999; Messiaen et al., 2000; Nemethova et al., 2013); In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29685074, 26056819, 12807981, 10862084, 10543400, 31533797, 34694046, 29922827, 34427956, 11258625, 10607834, 24803665, 25919870, 11258624, 12095621, 27074763, 19076627, 11735023, 23758643, 22155606, 15863657, 22190595, 15994866, 29666462, 29522274, 12566521, 30014477, 30290804, 30308447, 23668869, 30530636, 31766501, 31717729, 31370276, 29625052, 33372952, 31589614, 31776437, 34308104, 34945792, 33999308, 34992632) (less)
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Pathogenic
(Apr 26, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Neurofibromatosis, type 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV003919714.1
First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023 |
Clinical Features:
Neurofibromatosis (present)
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Pathogenic
(Jun 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470145.3
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
Peer-reviewed experimental studies have demonstrated that this variant causes aberrant splicing resulting in a nonsense variant (p.Tyr489*) in the NF1 mRNA which causes premature termination … (more)
Peer-reviewed experimental studies have demonstrated that this variant causes aberrant splicing resulting in a nonsense variant (p.Tyr489*) in the NF1 mRNA which causes premature termination of NF1 protein synthesis (PMID: 10543400 (1999), 11258625 (1999), and 10607834 (2000)). It has been reported in numerous Neurofibromatosis type 1 patients in the published literature (PMID: 23758643 (2013), 23668869 (2013), and 26740943 (2015)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 18, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Neurofibromatosis, type 1
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000218980.11
First in ClinVar: Mar 29, 2015 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 489 of the NF1 protein … (more)
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 489 of the NF1 protein (p.Tyr489Cys). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs137854557, gnomAD 0.007%). This missense change has been observed in individuals with neurofibromatosis type 1 (PMID: 10543400, 10607834, 10862084, 11258625, 19076627, 22155606, 22190595). ClinVar contains an entry for this variant (Variation ID: 354). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. Studies have shown that this missense change results in skipping of 62 nucleotides in exon 13 (referred to as exon 10b in the literature) and introduces a premature termination codon (PMID: 10543400, 10607834, 11258625). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2003)
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no assertion criteria provided
Method: literature only
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NEUROFIBROMATOSIS, TYPE I
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000020526.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
Among the 9 NF1 exon 10b mutations identified by Messiaen et al. (1999) in 232 unrelated patients with neurofibromatosis type I (162200), 2 were recurrent: … (more)
Among the 9 NF1 exon 10b mutations identified by Messiaen et al. (1999) in 232 unrelated patients with neurofibromatosis type I (162200), 2 were recurrent: an A-to-G transition at nucleotide 1466, resulting in a tyr489-to-cys substitution (Y489C), and a T-to-C transition at nucleotide 1523, resulting in a leu508-to-pro substitution (L508P; 613113.0024). The Y489C mutation caused skipping of the last 62 nucleotides of exon 10b, while the L508P mutation was undetectable by the protein truncation test. (less)
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Pathogenic
(Sep 01, 2020)
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no assertion criteria provided
Method: provider interpretation
|
Rhabdomyosarcoma
Affected status: yes
Allele origin:
germline
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434353.1
First in ClinVar: Oct 02, 2020 Last updated: Oct 02, 2020 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955347.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968585.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. | Li H | Journal of the National Cancer Institute | 2021 | PMID: 33372952 |
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients. | Zhu G | Orphanet journal of rare diseases | 2019 | PMID: 31533797 |
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience. | Santoro C | American journal of medical genetics. Part A | 2017 | PMID: 28422438 |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. | Evans DG | EBioMedicine | 2016 | PMID: 27322474 |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. | Jang MA | Journal of human genetics | 2016 | PMID: 27074763 |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. | Hutter S | Human genetics | 2016 | PMID: 26969325 |
126 novel mutations in Italian patients with neurofibromatosis type 1. | Bianchessi D | Molecular genetics & genomic medicine | 2015 | PMID: 26740943 |
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. | Xu W | International journal of molecular medicine | 2014 | PMID: 24789688 |
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. | Nemethova M | Annals of human genetics | 2013 | PMID: 23758643 |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | Ko JM | Pediatric neurology | 2013 | PMID: 23668869 |
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. | Ribeiro MJ | Investigative ophthalmology & visual science | 2012 | PMID: 22190595 |
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. | Laycock-van Spyk S | Human genomics | 2011 | PMID: 22155606 |
Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient. | Bongiorno MR | Dermatologic therapy | 2008 | PMID: 19076627 |
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. | Bausch B | The Journal of clinical endocrinology and metabolism | 2007 | PMID: 17426081 |
Independent NF1 mutations in two large families with spinal neurofibromatosis. | Messiaen L | Journal of medical genetics | 2003 | PMID: 12566521 |
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. | Messiaen LM | Human mutation | 2000 | PMID: 10862084 |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. | Fahsold R | American journal of human genetics | 2000 | PMID: 10712197 |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. | Ars E | Human molecular genetics | 2000 | PMID: 10607834 |
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. | Messiaen LM | Genetics in medicine : official journal of the American College of Medical Genetics | 1999 | PMID: 11258625 |
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. | Osborn MJ | Human genetics | 1999 | PMID: 10543400 |
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Text-mined citations for rs137854557 ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.