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NM_000267.3(NF1):c.6858+1G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 10, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000404571.5
Variation ID:
404571
Description:
single nucleotide variant
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NM_000267.3(NF1):c.6858+1G>A

Allele ID
401871
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 31338806 (GRCh38) GRCh38 UCSC
17: 29665824 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_214t2:c.6921+1G>A
NC_000017.10:g.29665824G>A
NC_000017.11:g.31338806G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:31338805:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16615312
dbSNP: rs1060500355
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 14, 2020 RCV000476980.6
Pathogenic 1 criteria provided, single submitter Mar 11, 2019 RCV001558427.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7678 7888

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 02, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499693.1
Submitted: (Dec 10, 2020)
Evidence details
Pathogenic
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Invitae
Accession: SCV000542170.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change affects a donor splice site in intron 45 of the NF1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Mar 11, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001780371.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Deletions involving coding exons in this gene are frequently reported … (more)
Likely pathogenic
(Feb 02, 2017)
no assertion criteria provided
Method: clinical testing
Neurofibromatosis type 1
Allele origin: germline
Medical Genetics, University of Parma
Accession: SCV000588827.1
Submitted: (Jun 21, 2017)
Evidence details
Pathogenic
(Dec 13, 2016)
no assertion criteria provided
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000692364.1
Submitted: (Jan 31, 2018)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Sabbagh A Human mutation 2013 PMID: 23913538
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
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Kluwe L Human mutation 2002 PMID: 11857752
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Han SS Human genetics 2001 PMID: 11735023
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

Text-mined citations for rs1060500355...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 17, 2021