NM_000287.4(PEX6):c.2362G>A (p.Val788Met) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 30, 2018
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:: RCV000672227.2

Allele description [Variation Report for NM_000287.4(PEX6):c.2362G>A (p.Val788Met)]

NM_000287.4(PEX6):c.2362G>A (p.Val788Met)

Gene:

PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000287.4(PEX6):c.2362G>A (p.Val788Met)

HGVS:

NC_000006.12:g.42966044C>T
NG_008370.1:g.18200G>A
NM_000287.4:c.2362G>AMANE SELECT
NM_001316313.2:c.2098G>A
NP_000278.3:p.Val788Met
NP_001303242.1:p.Val700Met
NC_000006.11:g.42933782C>T
NM_000287.3:c.2362G>A

Protein change:

V700M

Links:

dbSNP: rs267608240

NCBI 1000 Genomes Browser:

rs267608240

Molecular consequence:

NM_000287.4:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001316313.2:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
Synonyms:: Zellweger syndrome spectrum (PEX6-related)
Identifiers:: MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862

Name:: Peroxisome biogenesis disorder 4B (PBD4B)
Identifiers:: MONDO: MONDO:0013931; MedGen: C3553937; Orphanet: 44; OMIM: 614863

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Hippocampus
Hippocampus
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subi...<br/>Year introduced: 2015(1966)

MeSH
Blood-Brain Barrier
Blood-Brain Barrier
Specialized non-fenestrated tightly-joined ENDOTHELIAL CELLS with TIGHT JUNCTIONS that form a transport barrier for certain substances between the cerebral capillaries and the...<br/>Year introduced: 1966

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797314	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 30, 2018)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19877282, 26700162, 19142205, 11355018 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797314

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Mar 30, 2018)

unknown

clinical testing

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

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

Citations

PubMed

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS, Kofster J, Wanders RJ, Waterham HR.

Hum Mutat. 2010 Jan;31(1):E1058-70. doi: 10.1002/humu.21153.

PubMed [citation]

PMID:: 19877282

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Lüsebrink N, Porto L, Waterham HR, Ferdinandusse S, Rosewich H, Kurlemann G, Kieslich M.

Eur J Paediatr Neurol. 2016 Mar;20(2):331-335. doi: 10.1016/j.ejpn.2015.11.008. Epub 2015 Dec 1.

PubMed [citation]

PMID:: 26700162

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000797314.1

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

#	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 20, 2024

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