NM_000414.4(HSD17B4):c.56_58+3del AND Bifunctional peroxisomal enzyme deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 12, 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:: RCV000669845.1

Allele description [Variation Report for NM_000414.4(HSD17B4):c.56_58+3del]

NM_000414.4(HSD17B4):c.56_58+3del

Genes:

LOC129994460:ATAC-STARR-seq lymphoblastoid active region 22989 [Gene]
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q23.1

Genomic location:

Preferred name:

NM_000414.4(HSD17B4):c.56_58+3del

HGVS:

NC_000005.10:g.119452631_119452636del
NG_008182.1:g.5179_5184del
NM_000414.4:c.56_58+3delMANE SELECT
NM_001199291.3:c.-123_-118del
NM_001199292.2:c.56_58+3del
NM_001292027.2:c.-82_-80+3del
NM_001292028.2:c.-544_-539del
NC_000005.9:g.118788326_118788331del
NM_000414.3:c.56_58+3del6

Links:

dbSNP: rs1554059509

NCBI 1000 Genomes Browser:

rs1554059509

Molecular consequence:

NM_001199291.3:c.-123_-118del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001292028.2:c.-544_-539del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000414.4:c.56_58+3del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001199292.2:c.56_58+3del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001292027.2:c.-82_-80+3del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794637	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Oct 12, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794637

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Oct 12, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794637.1

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

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

Last Updated: Oct 14, 2023

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