NM_000466.3(PEX1):c.2723del (p.Pro908fs) AND Peroxisome biogenesis disorder 1B

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 2016
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:: RCV000412482.2

Allele description [Variation Report for NM_000466.3(PEX1):c.2723del (p.Pro908fs)]

NM_000466.3(PEX1):c.2723del (p.Pro908fs)

Gene:

PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_000466.3(PEX1):c.2723del (p.Pro908fs)

HGVS:

NC_000007.14:g.92496774del
NG_008341.1:g.36759del
NG_008341.2:g.36759del
NM_000466.3:c.2723delMANE SELECT
NM_001282677.2:c.2552del
NM_001282678.2:c.2099del
NP_000457.1:p.Pro908fs
NP_001269606.1:p.Pro851fs
NP_001269607.1:p.Pro700fs
NC_000007.13:g.92126088del
NM_000466.2:c.2723delC

Protein change:

P700fs

Links:

dbSNP: rs1057517503

NCBI 1000 Genomes Browser:

rs1057517503

Molecular consequence:

NM_000466.3:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282677.2:c.2552del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282678.2:c.2099del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Peroxisome biogenesis disorder 1B (PBD1B)
Synonyms:: Refsum disease, infantile form; Infantile Refsum disease; Infantile form of phytanic acid storage disease
Identifiers:: MONDO: MONDO:0011101; MedGen: C0282527; Orphanet: 44; OMIM: 601539

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487626	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (May 31, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487626

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(May 31, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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, SCV000487626.2

#	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: Dec 24, 2022

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