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NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 13, 2019)
Accession:
VCV000812898.1
Variation ID:
812898
Description:
15bp indel
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NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)

Allele ID
801168
Variant type
Indel
Variant length
15 bp
Cytogenetic location
17q11.2
Genomic location
17: 31226615-31226629 (GRCh38) GRCh38 UCSC
17: 29553633-29553647 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_214:g.136639_136653delinsT
LRG_214t1:c.2182_2196delinsT LRG_214p1:p.Val728fs
NC_000017.10:g.29553633_29553647delinsT
... more HGVS
Protein change
V728fs
Other names
-
Canonical SPDI
NC_000017.11:31226614:GTGCATAACCTCTTG:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1597712665
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV001003807.1
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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
7743 7953

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Neurofibroma
Juvenile myelomonocytic leukemia
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001162256.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)

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
Whole-genome sequencing of patients with rare diseases in a national health system. Turro E Nature 2020 PMID: 32581362

Text-mined citations for rs1597712665...

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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 Oct 08, 2021