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NM_006415.4(SPTLC1):c.560+16G>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Jan 28, 2014
Accession:
VCV000139321.3
Variation ID:
139321
Description:
single nucleotide variant
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NM_006415.4(SPTLC1):c.560+16G>C

Allele ID
143024
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.31
Genomic location
9: 92067950 (GRCh38) GRCh38 UCSC
9: 94830232 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.94830232C>G
NC_000009.12:g.92067950C>G
NG_007950.1:g.52459G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:92067949:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.15076 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.16615
The Genome Aggregation Database (gnomAD) 0.15703
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.17092
The Genome Aggregation Database (gnomAD) 0.16685
1000 Genomes Project 0.15076
Trans-Omics for Precision Medicine (TOPMed) 0.16007
Links
ClinGen: CA293765
dbSNP: rs73512337
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Jan 28, 2014 RCV000128282.3
Benign 1 criteria provided, single submitter - RCV001172881.1
Benign 1 no assertion criteria provided - RCV000609452.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPTLC1 - - GRCh38
GRCh37
216 249

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171874.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335954.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Neuropathy, hereditary sensory and autonomic, type 1A
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734721.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923300.1
Submitted: (Sep 23, 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 rs73512337...

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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 Dec 04, 2021