NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) AND multiple conditions

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 20, 2024
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:: RCV000477799.4

Allele description [Variation Report for NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)]

NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)

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.1369A>T (p.Asn457Tyr)

HGVS:

NC_000005.10:g.119509176A>T
NG_008182.1:g.61724A>T
NM_000414.4:c.1369A>TMANE SELECT
NM_001199291.3:c.1444A>T
NM_001199292.2:c.1315A>T
NM_001292027.2:c.1297A>T
NM_001292028.2:c.949A>T
NP_000405.1:p.Asn457Tyr
NP_001186220.1:p.Asn482Tyr
NP_001186221.1:p.Asn439Tyr
NP_001278956.1:p.Asn433Tyr
NP_001278957.1:p.Asn317Tyr
NC_000005.9:g.118844871A>T
NM_000414.3:c.1369A>T
P51659:p.Asn457Tyr

Protein change:

N317Y; ASN457TYR

Links:

UniProtKB: P51659#VAR_065908; OMIM: 601860.0004; dbSNP: rs137853097

NCBI 1000 Genomes Browser:

rs137853097

Molecular consequence:

NM_000414.4:c.1369A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001199291.3:c.1444A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001199292.2:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001292027.2:c.1297A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001292028.2:c.949A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bifunctional peroxisomal enzyme deficiency (DBIF)
Synonyms:: DBP DEFICIENCY; PBFE DEFICIENCY; D-bifunctional protein 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536760	Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq	no assertion criteria provided	Likely pathogenic (Dec 15, 2015)	germline	research	PubMed (4) [See all records that cite these PMIDs] 10400999, 22864515, 25882080, 16385454
SCV002791043	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 20, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536760

Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq

no assertion criteria provided

Likely pathogenic
(Dec 15, 2015)

germline

research

PubMed (4)
[See all records that cite these PMIDs]

SCV002791043

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 20, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.

Hum Mol Genet. 1999 Aug;8(8):1509-16.

PubMed [citation]

PMID:: 10400999

Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

Tsuchida S, Kawamoto K, Endo N, Nunome K, Hamaue N, Aoki T.

J Oleo Sci. 2012;61(8):443-50.

PubMed [citation]

PMID:: 22864515

See all PubMed Citations (5)

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536760.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002791043.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2025

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