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NM_152419.3(HGSNAT):c.1250+7G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000363148.6
Variation ID:
363148
Description:
single nucleotide variant
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NM_152419.3(HGSNAT):c.1250+7G>A

Allele ID
314597
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43191602 (GRCh38) GRCh38 UCSC
8: 43046745 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43046745G>A
NC_000008.11:g.43191602G>A
NM_152419.3:c.1250+7G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:43191601:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00118
The Genome Aggregation Database (gnomAD), exomes 0.00106
Trans-Omics for Precision Medicine (TOPMed) 0.00483
1000 Genomes Project 0.00379
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00340
The Genome Aggregation Database (gnomAD) 0.00481
Links
dbSNP: rs74795999
ClinGen: CA4736814
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Jan 12, 2018 RCV000384314.3
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV000887890.3
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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
531 592

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000474014.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 73
Mucopolysaccharidosis, MPS-III-C
Allele origin: germline
Invitae
Accession: SCV001031480.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 28, 2019)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type IIIC
Allele origin: germline
Natera, Inc.
Accession: SCV001460920.1
Submitted: (Dec 28, 2020)
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 rs74795999...

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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 Aug 27, 2021