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NM_001042492.3(NF1):c.1721+3A>G

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Nov 10, 2021)
Last evaluated:
Oct 7, 2021
Accession:
VCV000374108.9
Variation ID:
374108
Description:
single nucleotide variant
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NM_001042492.3(NF1):c.1721+3A>G

Allele ID
361009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 29548950 (GRCh37) GRCh37 UCSC
17: 31221932 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.29548950A>G
NC_000017.11:g.31221932A>G
NG_009018.1:g.131956A>G
... more HGVS
Protein change
Y575C
Other names
-
Canonical SPDI
NC_000017.11:31221931:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16043521
dbSNP: rs1057518904
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 30, 2020 RCV000457496.6
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 7, 2021 RCV000992429.2
Pathogenic 1 criteria provided, single submitter Dec 1, 2014 RCV000414938.1
Pathogenic 1 criteria provided, single submitter Apr 6, 2015 RCV000492226.1
Pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626641.1
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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
7841 8053

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2014)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis type 6
Neurofibroma
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000492873.1
Submitted: (Nov 12, 2016)
Evidence details
Pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis type 6
Optic nerve glioma
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747343.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Aug 06, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144735.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (14)
Comment:
Not found in the total gnomAD dataset, and the data is high quality (0/263140 chr). Variant has been found in 6 or more unrelated symptomatic … (more)
Pathogenic
(Apr 06, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581237.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (7)
Comment:
The c.1721+3A>G intronic pathogenic mutation results from an A to G substitution 3 nucleotides after coding exon 15 in the NF1 gene. This mutation was … (more)
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: SCV001499690.1
Submitted: (Dec 10, 2020)
Evidence details
Pathogenic
(Aug 30, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Invitae
Accession: SCV000542219.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change falls in intron 15 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein, … (more)
Pathogenic
(Oct 07, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002013467.1
Submitted: (Nov 10, 2021)
Evidence details
Comment:
Non-canonical splice site variant demonstrated to result in skipping of exon 11 (Violante 2013, Esposito 2015); In-silico analysis, which includes splice predictors and evolutionary conservation, … (more)

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
- - - - PMID: 10607834
- - - - PMID: 10712197
- - - - PMID: 15146469
- - - - PMID: 16380919
- - - - PMID: 16944272
- - - - PMID: 17576681
- - - - PMID: 18546366
- - - - PMID: 19845691
- - - - PMID: 22190595
- - - - PMID: 23404336
- - - - PMID: 25325900
- - - - PMID: 26478990
- - - - PMID: 26969325
- - - - PMID: 27322474
- - - - PMID: 28008555
- - - - PMID: 7981679
- - - - PMID: 9536098
- - - - PMID: 28492532

Text-mined citations for rs1057518904...

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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 Nov 27, 2021