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NM_005097.4(LGI1):c.216-55T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000464748.4
Variation ID:
464748
Description:
single nucleotide variant
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NM_005097.4(LGI1):c.216-55T>C

Allele ID
460397
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.33
Genomic location
10: 93758705 (GRCh38) GRCh38 UCSC
10: 95518462 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.95518462T>C
NC_000010.10:g.95518462T>C
NC_000010.11:g.93758705T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:93758704:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00630
Trans-Omics for Precision Medicine (TOPMed) 0.00667
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00745
1000 Genomes Project 0.00339
Links
ClinGen: CA211603421
dbSNP: rs143132529
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 Dec 8, 2020 RCV000535858.5
Likely benign 1 criteria provided, single submitter Jan 13, 2017 RCV000596862.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LGI1 - - GRCh38
GRCh37
251 268

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000704895.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant epilepsy with auditory features
Allele origin: germline
Invitae
Accession: SCV000639378.5
Submitted: (Jan 07, 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.

Text-mined citations for rs143132529...

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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