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NM_152419.3(HGSNAT):c.744-2A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 17, 2017
Accession:
VCV000555096.1
Variation ID:
555096
Description:
single nucleotide variant
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NM_152419.3(HGSNAT):c.744-2A>G

Allele ID
544774
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43172308 (GRCh38) GRCh38 UCSC
8: 43027451 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43027451A>G
NC_000008.11:g.43172308A>G
NG_009552.1:g.36860A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:43172307:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs762402992
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 17, 2017 RCV000670844.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HGSNAT - - GRCh38
GRCh37
533 594

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-C
Allele origin: unknown
Counsyl
Accession: SCV000795755.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Feldhammer M Human mutation 2009 PMID: 19479962

Text-mined citations for rs762402992...

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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 Nov 27, 2021