NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 24, 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:: RCV000665722.1

Allele description [Variation Report for NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)]

NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)

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.2518_2520del (p.Asp840del)

HGVS:

NC_000007.14:g.92501570_92501572del
NG_008341.2:g.31960_31962del
NM_000466.3:c.2518_2520delMANE SELECT
NM_001282677.2:c.2347_2349del
NM_001282678.2:c.1894_1896del
NP_000457.1:p.Asp840del
NP_001269606.1:p.Asp783del
NP_001269607.1:p.Asp632del
NC_000007.13:g.92130884_92130886del
NG_008341.1:g.31960_31962del
NM_000466.2:c.2518_2520delGAC

Protein change:

D632del

Links:

dbSNP: rs1385204416

NCBI 1000 Genomes Browser:

rs1385204416

Molecular consequence:

NM_000466.3:c.2518_2520del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282677.2:c.2347_2349del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282678.2:c.1894_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:: Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:: MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789887	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 24, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789887

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 24, 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, SCV000789887.1

#	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: Feb 28, 2024

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