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NM_000815.5(GABRD):c.1060-7C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000460003.12
Variation ID:
460003
Description:
single nucleotide variant
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NM_000815.5(GABRD):c.1060-7C>T

Allele ID
447724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.33
Genomic location
1: 2029976 (GRCh38) GRCh38 UCSC
1: 1961415 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.1961415C>T
NC_000001.11:g.2029976C>T
NG_008168.1:g.15648C>T
NM_000815.5:c.1060-7C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:2029975:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00032
Exome Aggregation Consortium (ExAC) 0.00039
The Genome Aggregation Database (gnomAD), exomes 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00045
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
The Genome Aggregation Database (gnomAD) 0.00054
Trans-Omics for Precision Medicine (TOPMed) 0.00077
Links
ClinGen: CA534899
dbSNP: rs368961588
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 22, 2020 RCV001084028.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 15, 2018 RCV000711727.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRD - - GRCh38
GRCh37
195 339

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842115.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Nov 22, 2020)
criteria provided, single submitter
Method: clinical testing
Idiopathic generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV000632035.5
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001147104.7
Submitted: (Jul 04, 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 rs368961588...

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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