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NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 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:
RCV001810425.10

Allele description [Variation Report for NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)]

NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)

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.101C>T (p.Ala34Val)
HGVS:
  • NC_000005.10:g.119456357C>T
  • NG_008182.1:g.8905C>T
  • NM_000414.4:c.101C>TMANE SELECT
  • NM_001199291.3:c.111C>T
  • NM_001199292.2:c.58+3724C>T
  • NM_001292027.2:c.-37C>T
  • NM_001292028.2:c.-311C>T
  • NP_000405.1:p.Ala34Val
  • NP_001186220.1:p.Ser37=
  • NC_000005.9:g.118792052C>T
  • NM_000414.3:c.101C>T
Protein change:
A34V; ALA34VAL
Links:
OMIM: 601860.0010; dbSNP: rs587777442
NCBI 1000 Genomes Browser:
rs587777442
Molecular consequence:
  • NM_001292027.2:c.-37C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001292028.2:c.-311C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001199292.2:c.58+3724C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000414.4:c.101C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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 1 (PRLTS1)
Synonyms:
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; Ovarian dysgenesis with sensorineural deafness
Identifiers:
MONDO: MONDO:0009300; MedGen: C4551721; Orphanet: 2855; OMIM: 233400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002060219Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))
Uncertain significance
(Nov 8, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium., Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM.

Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.

PubMed [citation]
PMID:
23181892
PMCID:
PMC3551712

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

Details of each submission

From Myriad Genetics, Inc., SCV002060219.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

NM_000414.3(HSD17B4):c.101C>T(A34V) is a missense variant classified as a variant of uncertain significance in the context of D-bifunctional protein deficiency. A34V has been observed in cases with relevant disease (PMID: 23181892, 16385454). Functional assessments of this variant are not available in the literature. A34V has been observed in population frequency databases (gnomAD: EAS 0.01%). In summary, there is insufficient evidence to classify NM_000414.3(HSD17B4):c.101C>T(A34V) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Jul 7, 2024