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NM_000153.4(GALC):c.753-5del

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 23, 2019
Accession:
VCV000778995.2
Variation ID:
778995
Description:
1bp deletion
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NM_000153.4(GALC):c.753-5del

Allele ID
778108
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
14q31.3
Genomic location
14: 87968495 (GRCh38) GRCh38 UCSC
14: 88434839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.88434847del
NC_000014.9:g.87968503del
NM_000153.4:c.753-5del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:87968494:AAAAAAAAA:AAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (AAAAAAAA)

Allele frequency
-
Links
dbSNP: rs533067313
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 8, 2018 RCV000959737.1
Likely benign 1 criteria provided, single submitter Jan 23, 2019 RCV001428227.1
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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
701 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001106659.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jan 23, 2019)
criteria provided, single submitter
Method: clinical testing
Galactosylceramide beta-galactosidase deficiency
Allele origin: germline
Invitae
Accession: SCV001630923.1
Submitted: (Jan 07, 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 rs533067313...

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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 May 26, 2021