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NM_006158.5(NEFL):c.*101A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 20, 2021)
Last evaluated:
Jun 29, 2018
Accession:
VCV000362643.5
Variation ID:
362643
Description:
single nucleotide variant
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NM_006158.5(NEFL):c.*101A>G

Allele ID
308700
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p21.2
Genomic location
8: 24952709 (GRCh38) GRCh38 UCSC
8: 24810222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006158.4:c.*101A>G 3 prime UTR
NC_000008.10:g.24810222T>C
NC_000008.11:g.24952709T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:24952708:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00551
Trans-Omics for Precision Medicine (TOPMed) 0.00267
1000 Genomes Project 0.00300
Links
ClinGen: CA10627537
dbSNP: rs34505194
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000389986.2
Likely benign 1 criteria provided, single submitter Jun 29, 2018 RCV001576225.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEFL No evidence available No evidence available GRCh38
GRCh37
360 437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, demyelinating, type 1f
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000473124.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jun 29, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001803368.1
Submitted: (Aug 20, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs34505194...

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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 24, 2021