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NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 11, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000818199.2
Variation ID:
818199
Description:
2bp microsatellite
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NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)

Allele ID
806402
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
17q11.2
Genomic location
17: 31336885-31336886 (GRCh38) GRCh38 UCSC
17: 29663903-29663904 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.29663904GT[1]
NC_000017.11:g.31336886GT[1]
NM_001042492.3:c.6401_6402del MANE Select NP_001035957.1:p.Cys2134fs frameshift
... more HGVS
Protein change
C2134fs, C2113fs
Other names
-
Canonical SPDI
NC_000017.11:31336884:TGTGT:TGT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1597843186
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 10, 2018 RCV001009604.1
Likely pathogenic 1 criteria provided, single submitter Oct 26, 2020 RCV001290851.1
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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
7722 7932

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 10, 2018)
criteria provided, single submitter
Method: research
Neurofibromatosis, type 1
Tibial pseudoarthrosis
Allele origin: de novo
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
Accession: SCV001169705.1
Submitted: (Sep 22, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV001479058.1
Submitted: (Feb 11, 2021)
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
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

Text-mined citations for rs1597843186...

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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 May 28, 2021