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NM_000414.4(HSD17B4):c.58+123G>C AND Bifunctional peroxisomal enzyme deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV000670280.1

Allele description [Variation Report for NM_000414.4(HSD17B4):c.58+123G>C]

NM_000414.4(HSD17B4):c.58+123G>C

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.58+123G>C
HGVS:
  • NC_000005.10:g.119452756G>C
  • NG_008182.1:g.5304G>C
  • NM_000414.4:c.58+123G>CMANE SELECT
  • NM_001199291.3:c.3G>C
  • NM_001199292.2:c.58+123G>C
  • NM_001292027.2:c.-80+123G>C
  • NM_001292028.2:c.-419G>C
  • NP_001186220.1:p.Met1Ile
  • NC_000005.9:g.118788451G>C
  • NM_000414.3:c.58+123G>C
Protein change:
M1I
Links:
dbSNP: rs762157656
NCBI 1000 Genomes Browser:
rs762157656
Molecular consequence:
  • NM_001292028.2:c.-419G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001199291.3:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000414.4:c.58+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199292.2:c.58+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001292027.2:c.-80+123G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199291.3:c.3G>C - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795114Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Oct 27, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795114.2

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

Last Updated: Sep 3, 2023