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NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Ser296_Met297insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 7, 2020
Accession:
VCV001076291.1
Variation ID:
1076291
Description:
143bp insertion
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NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Ser296_Met297insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)

Allele ID
1061349
Variant type
Insertion
Variant length
143 bp
Cytogenetic location
8p11.21
Genomic location
8: 43178089-43178090 (GRCh38) GRCh38 UCSC
8: 43033232-43033233 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43033249_43033250insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT
NC_000008.11:g.43178106_43178107insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT
NG_009552.1:g.42658_42659insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
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
Pathogenic 1 criteria provided, single submitter Feb 7, 2020 RCV001390155.1
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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
534 595

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001591791.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (5)
Comment:
This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 10 of the HGSNAT gene (c.884_885insAlu), causing a frameshift 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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Title Author Journal Year Link
Active human retrotransposons: variation and disease. Hancks DC Current opinion in genetics & development 2012 PMID: 22406018
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. Konkel MK Seminars in cancer biology 2010 PMID: 20307669
The impact of retrotransposons on human genome evolution. Cordaux R Nature reviews. Genetics 2009 PMID: 19763152
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
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Hrebícek M American journal of human genetics 2006 PMID: 17033958

Record last updated Nov 27, 2021