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NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 25, 2019
Accession:
VCV000941375.2
Variation ID:
941375
Description:
single nucleotide variant
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NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)

Allele ID
930034
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151662221 (GRCh38) GRCh38 UCSC
1: 151634697 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001330723.2:c.857C>A MANE Select NP_001317652.1:p.Thr286Lys missense
NM_030918.6:c.857C>A NP_112180.4:p.Thr286Lys missense
NC_000001.10:g.151634697C>A
NC_000001.11:g.151662221C>A
Protein change
T286K
Other names
-
Canonical SPDI
NC_000001.11:151662220:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Aug 25, 2019 RCV001211152.1
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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
(Aug 25, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV001382677.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with lysine at codon 286 of the SNX27 protein (p.Thr286Lys). The threonine residue is highly 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.

Record last updated Oct 08, 2021