Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 26, 2018
Accession:
VCV000583190.1
Variation ID:
583190
Description:
single nucleotide variant
Help

NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)

Allele ID
556641
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151660857 (GRCh38) GRCh38 UCSC
1: 151633333 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151633333G>A
NC_000001.11:g.151660857G>A
NM_001330723.2:c.796G>A MANE Select NP_001317652.1:p.Asp266Asn missense
NM_030918.6:c.796G>A NP_112180.4:p.Asp266Asn missense
Protein change
D266N
Other names
-
Canonical SPDI
NC_000001.11:151660856:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs779687444
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 26, 2018 RCV000707463.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SNX27 - - GRCh38
GRCh37
185 194

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 26, 2018)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV000836562.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 266 of the SNX27 protein (p.Asp266Asn). The aspartic acid residue is highly conserved and there … (more)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs779687444...

Help
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 08, 2021