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NM_000414.4(HSD17B4):c.605dup (p.Thr203fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 20, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001975004.4

Allele description [Variation Report for NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)]

NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)

Gene:
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)
HGVS:
  • NC_000005.10:g.119479004dup
  • NG_008182.1:g.31552dup
  • NM_000414.4:c.605dupMANE SELECT
  • NM_001199291.3:c.680dup
  • NM_001199292.1:c.551dup
  • NM_001199292.2:c.551dup
  • NM_001292027.2:c.533dup
  • NM_001292028.2:c.185dup
  • NM_001374497.1:c.596dup
  • NM_001374498.1:c.605dup
  • NM_001374499.1:c.278dup
  • NM_001374500.1:c.164dup
  • NM_001374501.1:c.194dup
  • NM_001374502.1:c.194dup
  • NM_001374503.1:c.194dup
  • NP_000405.1:p.Thr203fs
  • NP_001186220.1:p.Thr228fs
  • NP_001186221.1:p.Thr185fs
  • NP_001278956.1:p.Thr179fs
  • NP_001278957.1:p.Thr63fs
  • NP_001361426.1:p.Thr200fs
  • NP_001361427.1:p.Thr203fs
  • NP_001361428.1:p.Thr94fs
  • NP_001361429.1:p.Thr56fs
  • NP_001361430.1:p.Thr66fs
  • NP_001361431.1:p.Thr66fs
  • NP_001361432.1:p.Thr66fs
  • NC_000005.9:g.118814698_118814699insA
  • NC_000005.9:g.118814699dup
  • NR_164653.1:n.684dup
  • NR_164654.1:n.872dup
Protein change:
T179fs
Links:
dbSNP: rs2126703227
NCBI 1000 Genomes Browser:
rs2126703227
Molecular consequence:
  • NM_000414.4:c.605dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199291.3:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199292.2:c.551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292027.2:c.533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292028.2:c.185dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374497.1:c.596dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374498.1:c.605dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374499.1:c.278dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374500.1:c.164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374501.1:c.194dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374502.1:c.194dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374503.1:c.194dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_164653.1:n.684dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164654.1:n.872dup - 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
Name:
Perrault syndrome
Synonyms:
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Identifiers:
MONDO: MONDO:0017312; MedGen: C0685838; Orphanet: 2855; OMIM: PS233400

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  • LOC125620603 [Caretta caretta]
    LOC125620603 [Caretta caretta]
    Gene ID:125620603
    Gene
  • Transforming Growth Factor beta3
    Transforming Growth Factor beta3
    A TGF-beta subtype that plays role in regulating epithelial-mesenchymal interaction during embryonic development. It is synthesized as a precursor molecule that is cleaved to ...<br/>Year introduced: 2007(2000)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243639Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 20, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.

Paton BC, Solly PB, Nelson PV, Pollard AN, Sharp PC, Fietz MJ.

Prenat Diagn. 2002 Jan;22(1):38-41.

PubMed [citation]
PMID:
11810648

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T.

Am J Hum Genet. 2006 Jan;78(1):112-24. Epub 2005 Nov 15.

PubMed [citation]
PMID:
16385454
PMCID:
PMC1380208
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243639.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr203Aspfs*5) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024