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NM_000414.4(HSD17B4):c.1210-11C>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Apr 7, 2020)
Last evaluated:
Jan 22, 2018
Accession:
VCV000559071.2
Variation ID:
559071
Description:
single nucleotide variant
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NM_000414.4(HSD17B4):c.1210-11C>G

Allele ID
549590
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.1
Genomic location
5: 119502030 (GRCh38) GRCh38 UCSC
5: 118837725 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.119502030C>G
NC_000005.9:g.118837725C>G
NM_000414.4:c.1210-11C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:119502029:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs779466683
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jan 22, 2018 RCV000676080.1
Likely pathogenic 1 no assertion criteria provided Apr 1, 2020 RCV001250119.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HSD17B4 - - GRCh38
GRCh37
455 482

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 22, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859249.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 14, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801816.1
Submitted: (May 23, 2018)
Evidence details
Likely pathogenic
(Apr 01, 2020)
no assertion criteria provided
Method: clinical testing
Bifunctional peroxisomal enzyme deficiency
Perrault syndrome 1
Allele origin: paternal
Elsea Laboratory,Baylor College of Medicine
Accession: SCV001424305.1
Submitted: (Apr 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HSD17B4 - - - -

Text-mined citations for rs779466683...

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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 19, 2021