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NM_000199.5(SGSH):c.250-26C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 28, 2021)
Last evaluated:
Mar 3, 2015
Accession:
VCV000255515.2
Variation ID:
255515
Description:
single nucleotide variant
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NM_000199.5(SGSH):c.250-26C>T

Allele ID
256542
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80215164 (GRCh38) GRCh38 UCSC
17: 78188963 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78188963G>A
NC_000017.11:g.80215164G>A
NG_008229.1:g.10237C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:80215163:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.44309 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.54981
1000 Genomes Project 0.55691
Exome Aggregation Consortium (ExAC) 0.53559
Trans-Omics for Precision Medicine (TOPMed) 0.55105
The Genome Aggregation Database (gnomAD) 0.54669
Links
ClinGen: CA8818107
dbSNP: rs4889839
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 - RCV000242315.1
Benign 2 criteria provided, single submitter Mar 3, 2015 RCV000676155.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGSH - - GRCh38
GRCh37
410 636

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302954.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001943909.1
Submitted: (Sep 28, 2021)
Evidence details
Benign
(Oct 22, 2015)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801906.1
Submitted: (May 23, 2018)
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 rs4889839...

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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 Oct 24, 2021