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NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) AND Bifunctional peroxisomal enzyme deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001830200.1

Allele description [Variation Report for NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)]

NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)

Gene:
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)
HGVS:
  • NC_000005.10:g.119478965G>C
  • NG_008182.1:g.31513G>C
  • NM_000414.4:c.566G>CMANE SELECT
  • NM_001199291.3:c.641G>C
  • NM_001199292.2:c.512G>C
  • NM_001292027.2:c.494G>C
  • NM_001292028.2:c.146G>C
  • NM_001374497.1:c.557G>C
  • NM_001374498.1:c.566G>C
  • NM_001374499.1:c.239G>C
  • NM_001374500.1:c.125G>C
  • NM_001374501.1:c.155G>C
  • NM_001374502.1:c.155G>C
  • NM_001374503.1:c.155G>C
  • NP_000405.1:p.Cys189Ser
  • NP_001186220.1:p.Cys214Ser
  • NP_001186221.1:p.Cys171Ser
  • NP_001278956.1:p.Cys165Ser
  • NP_001278957.1:p.Cys49Ser
  • NP_001361426.1:p.Cys186Ser
  • NP_001361427.1:p.Cys189Ser
  • NP_001361428.1:p.Cys80Ser
  • NP_001361429.1:p.Cys42Ser
  • NP_001361430.1:p.Cys52Ser
  • NP_001361431.1:p.Cys52Ser
  • NP_001361432.1:p.Cys52Ser
  • NC_000005.9:g.118814660G>C
  • NR_164653.1:n.645G>C
  • NR_164654.1:n.833G>C
Protein change:
C165S
Links:
dbSNP: rs372914814
NCBI 1000 Genomes Browser:
rs372914814
Molecular consequence:
  • NM_000414.4:c.566G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.641G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199292.2:c.512G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292027.2:c.494G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292028.2:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374497.1:c.557G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374498.1:c.566G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374499.1:c.239G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374500.1:c.125G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374501.1:c.155G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374502.1:c.155G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374503.1:c.155G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164653.1:n.645G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164654.1:n.833G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bifunctional peroxisomal enzyme deficiency (DBIF)
Synonyms:
D-bifunctional protein deficiency; DBP deficiency; D-bifunctional enzyme deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075400Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 17, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002075400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024