U.S. flag

An official website of the United States government

NM_000414.4(HSD17B4):c.1768-1G>A AND Bifunctional peroxisomal enzyme deficiency

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Mar 23, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003155657.3

Allele description [Variation Report for NM_000414.4(HSD17B4):c.1768-1G>A]

NM_000414.4(HSD17B4):c.1768-1G>A

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.1768-1G>A
HGVS:
  • NC_000005.10:g.119529893G>A
  • NG_008182.1:g.82441G>A
  • NM_000414.4:c.1768-1G>AMANE SELECT
  • NM_001199291.3:c.1843-1G>A
  • NM_001199292.2:c.1714-1G>A
  • NM_001292027.2:c.1696-1G>A
  • NM_001292028.2:c.1348-1G>A
  • NM_001374497.1:c.1759-1G>A
  • NM_001374498.1:c.1696-1G>A
  • NM_001374499.1:c.1441-1G>A
  • NM_001374500.1:c.1327-1G>A
  • NM_001374501.1:c.1357-1G>A
  • NM_001374502.1:c.1357-1G>A
  • NM_001374503.1:c.1357-1G>A
  • NC_000005.9:g.118865588G>A
  • NM_000414.3:c.1768-1G>A
Molecular consequence:
  • NM_000414.4:c.1768-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001199291.3:c.1843-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001199292.2:c.1714-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001292027.2:c.1696-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001292028.2:c.1348-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374497.1:c.1759-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374498.1:c.1696-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374499.1:c.1441-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374500.1:c.1327-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374501.1:c.1357-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374502.1:c.1357-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374503.1:c.1357-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003844413Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely pathogenic
(Feb 7, 2023)
germlineclinical testing

Citation Link,

SCV004192394Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 23, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: HSD17B4 c.1768-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250100 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1768-1G>A in individuals affected with D-Bifunctional Protein Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

From Baylor Genetics, SCV004192394.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024