This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign/Likely benign
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 3
- First in ClinVar:
- Sep 14, 2018
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Aug 7, 2020
- Accession:
- VCV000560641.9
- Variation ID:
- 560641
- Description:
- single nucleotide variant
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NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)
- Allele ID
- 551695
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 2q31.1
- Genomic location
- 2: 170818671 (GRCh38) GRCh38 UCSC
- 2: 171675181 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000817.3:c.80C>A MANE Select NP_000808.2:p.Thr27Lys missense NM_013445.4:c.80C>A NP_038473.2:p.Thr27Lys missense NC_000002.12:g.170818671C>A NC_000002.11:g.171675181C>A NG_021477.1:g.6982C>A - Protein change
- T27K
- Other names
- -
- Canonical SPDI
- NC_000002.12:170818670:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- 0.00180 (A)
- Allele frequency
- Exome Aggregation Consortium (ExAC) 0.00075
- The Genome Aggregation Database (gnomAD), exomes 0.00076
- The Genome Aggregation Database (gnomAD) 0.00015
- The Genome Aggregation Database (gnomAD) 0.00041
- Trans-Omics for Precision Medicine (TOPMed) 0.00072
- 1000 Genomes Project 0.00180
- Trans-Omics for Precision Medicine (TOPMed) 0.00040
- Links
- dbSNP: rs77655188
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Benign/Likely benign | 2 | criteria provided, multiple submitters, no conflicts | Aug 7, 2020 | RCV001836861.5 | |
| Uncertain significance | 1 | no assertion criteria provided | Aug 3, 2017 | RCV000678798.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
None
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services,Illumina
Accession: SCV001294702.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. (less)
|
|
|
Likely benign
(Aug 07, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001603644.2
First in ClinVar: May 16, 2021 Last updated: May 16, 2022 |
|
|
|
Uncertain significance
(Aug 03, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Infantile spasms
Affected status: yes
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804979.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Gender differences in associations of glutamate decarboxylase 1 gene (GAD1) variants with panic disorder. | Weber H | PloS one | 2012 | PMID: 22662185 |
Text-mined citations for rs77655188...
HelpThese 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 Jan 21, 2023