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NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) AND Perrault syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023152.3

Allele description [Variation Report for NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)]

NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)

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.650A>G (p.Tyr217Cys)
HGVS:
  • NC_000005.10:g.119489219A>G
  • NG_008182.1:g.41767A>G
  • NM_000414.4:c.650A>GMANE SELECT
  • NM_001199291.3:c.725A>G
  • NM_001199292.2:c.596A>G
  • NM_001292027.2:c.578A>G
  • NM_001292028.2:c.230A>G
  • NM_001374497.1:c.641A>G
  • NM_001374498.1:c.650A>G
  • NM_001374499.1:c.323A>G
  • NM_001374500.1:c.209A>G
  • NM_001374501.1:c.239A>G
  • NM_001374502.1:c.239A>G
  • NM_001374503.1:c.239A>G
  • NP_000405.1:p.Tyr217Cys
  • NP_001186220.1:p.Tyr242Cys
  • NP_001186221.1:p.Tyr199Cys
  • NP_001278956.1:p.Tyr193Cys
  • NP_001278957.1:p.Tyr77Cys
  • NP_001361426.1:p.Tyr214Cys
  • NP_001361427.1:p.Tyr217Cys
  • NP_001361428.1:p.Tyr108Cys
  • NP_001361429.1:p.Tyr70Cys
  • NP_001361430.1:p.Tyr80Cys
  • NP_001361431.1:p.Tyr80Cys
  • NP_001361432.1:p.Tyr80Cys
  • NC_000005.9:g.118824914A>G
  • NM_000414.3:c.650A>G
  • NR_164653.1:n.729A>G
  • NR_164654.1:n.917A>G
  • P51659:p.Tyr217Cys
Protein change:
Y108C; TYR217CYS
Links:
UniProtKB: P51659#VAR_065907; OMIM: 601860.0008; dbSNP: rs387906825
NCBI 1000 Genomes Browser:
rs387906825
Molecular consequence:
  • NM_000414.4:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.725A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199292.2:c.596A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292027.2:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292028.2:c.230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374497.1:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374498.1:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374499.1:c.323A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374500.1:c.209A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374501.1:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374502.1:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374503.1:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164653.1:n.729A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164654.1:n.917A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044443OMIM
no assertion criteria provided
Pathogenic
(Aug 13, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Perrault syndrome in sisters.

McCarthy DJ, Opitz JM.

Am J Med Genet. 1985 Nov;22(3):629-31. No abstract available.

PubMed [citation]
PMID:
4061497

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM.

Am J Med Genet A. 2004 Jul 30;128A(3):246-9.

PubMed [citation]
PMID:
15216544
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000044443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In 2 sisters with Perrault syndrome (PRLTS1; 233400), previously described by McCarthy and Opitz (1985) and Fiumara et al. (2004), Pierce et al. (2010) identified compound heterozygosity for a 605A-G transition in exon 9 of the HSD17B4 gene, resulting in a tyr217-to-cys (Y217C) substitution in a very highly conserved region of the protein, and a 1704T-A transversion in exon 20, resulting in a tyr568-to-ter (Y568X; 601860.0009) substitution. Their unaffected mother was found to be heterozygous for the Y217C mutation, and neither mutation was detected in 1,092 control individuals. Expression analysis using lymphoblast cDNA showed that Y568X transcript was expressed at very low levels relative to the Y217C transcript, suggesting that Y568X undergoes nonsense-mediated decay, whereas Y217C is more stably expressed.

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

Last Updated: Oct 7, 2023