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NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) AND Bifunctional peroxisomal enzyme deficiency

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 21, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000671323.4

Allele description [Variation Report for NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)]

NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)

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.743G>A (p.Arg248His)
HGVS:
  • NC_000005.10:g.119493821G>A
  • NG_008182.1:g.46369G>A
  • NM_000414.4:c.743G>AMANE SELECT
  • NM_001199291.3:c.818G>A
  • NM_001199292.2:c.689G>A
  • NM_001292027.2:c.671G>A
  • NM_001292028.2:c.323G>A
  • NP_000405.1:p.Arg248His
  • NP_001186220.1:p.Arg273His
  • NP_001186221.1:p.Arg230His
  • NP_001278956.1:p.Arg224His
  • NP_001278957.1:p.Arg108His
  • NC_000005.9:g.118829516G>A
  • NM_000414.3:c.743G>A
Protein change:
R108H
Links:
dbSNP: rs748057401
NCBI 1000 Genomes Browser:
rs748057401
Molecular consequence:
  • NM_000414.4:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199292.2:c.689G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292027.2:c.671G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292028.2:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796285Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Dec 15, 2017)
unknownclinical testing

Citation Link,

SCV004192365Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jan 21, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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 Counsyl, SCV000796285.1

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

From Baylor Genetics, SCV004192365.2

#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: Jul 7, 2024