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NM_001330723.2(SNX27):c.1150-3T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 18, 2019
Accession:
VCV000969722.2
Variation ID:
969722
Description:
single nucleotide variant
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NM_001330723.2(SNX27):c.1150-3T>C

Allele ID
960404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151683353 (GRCh38) GRCh38 UCSC
1: 151655829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151655829T>C
NC_000001.11:g.151683353T>C
NM_030918.6:c.1150-3T>C
NM_001330723.2:c.1150-3T>C MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:151683352:T:C
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 Oct 18, 2019 RCV001245133.2
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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
(Oct 18, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV001418402.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 7 of the SNX27 gene. It does not directly change the encoded amino acid sequence of the SNX27 protein, … (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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Oct 08, 2021