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NM_000153.4(GALC):c.1162-152G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 19, 2018
Accession:
VCV000680298.1
Variation ID:
680298
Description:
single nucleotide variant
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NM_000153.4(GALC):c.1162-152G>A

Allele ID
667590
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87950900 (GRCh38) GRCh38 UCSC
14: 88417244 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88417244C>T
NC_000014.9:g.87950900C>T
NM_000153.4:c.1162-152G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87950899:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.04333 (C)

Allele frequency
1000 Genomes Project 0.95667
Trans-Omics for Precision Medicine (TOPMed) 0.95508
The Genome Aggregation Database (gnomAD) 0.95942
Links
dbSNP: rs443019
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 19, 2018 RCV000840053.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALC - - GRCh38
GRCh37
699 720

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 19, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000981966.1
Submitted: (Apr 12, 2019)
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)

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 rs443019...

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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 Feb 27, 2021