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NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Mar 9, 2017
Accession:
VCV000462805.1
Variation ID:
462805
Description:
single nucleotide variant
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NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser)

Allele ID
447203
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151612319 (GRCh38) GRCh38 UCSC
1: 151584795 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151584795G>A
NC_000001.11:g.151612319G>A
NM_001330723.2:c.118G>A MANE Select NP_001317652.1:p.Gly40Ser missense
NM_030918.6:c.118G>A NP_112180.4:p.Gly40Ser missense
Protein change
G40S
Other names
-
Canonical SPDI
NC_000001.11:151612318:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341973872
dbSNP: rs1354158738
Varsome
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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 9, 2017 RCV000558417.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SNX27 - - GRCh38
GRCh37
185 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 09, 2017)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV000636260.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces glycine with serine at codon 40 of the SNX27 protein (p.Gly40Ser). The glycine residue is moderately conserved and there is a … (more)

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 rs1354158738...

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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 08, 2021