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NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 8, 2021)
Last evaluated:
May 28, 2019
Accession:
VCV000802572.4
Variation ID:
802572
Description:
single nucleotide variant
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NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)

Allele ID
790963
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49612299 (GRCh38) GRCh38 UCSC
10: 50820345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50820345C>A
NC_000010.11:g.49612299C>A
NG_011797.1:g.8205C>A
... more HGVS
Protein change
A520E
Other names
-
Canonical SPDI
NC_000010.11:49612298:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.99577
Trans-Omics for Precision Medicine (TOPMed) 0.99633
1000 Genomes Project 0.99740
The Genome Aggregation Database (gnomAD) 0.99678
The Genome Aggregation Database (gnomAD), exomes 0.99915
Exome Aggregation Consortium (ExAC) 0.99890
Links
dbSNP: rs8187730
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 May 28, 2019 RCV000988357.1
Benign 1 criteria provided, single submitter Jun 26, 2018 RCV001615095.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHAT - - GRCh38
GRCh37
401 499
SLC18A3 - - GRCh38
GRCh37
- 98

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial infantile myasthenia
Allele origin: unknown
Mendelics
Accession: SCV001138045.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001841578.1
Submitted: (Sep 08, 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 rs8187730...

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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 Sep 29, 2021