NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 13, 2021
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:: RCV002480855.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)]

NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)

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.1992G>C (p.Glu664Asp)

HGVS:

NC_000006.12:g.42966627C>G
NG_008370.1:g.17617G>C
NM_000287.4:c.1992G>CMANE SELECT
NM_001316313.2:c.1728G>C
NP_000278.3:p.Glu664Asp
NP_001303242.1:p.Glu576Asp
NC_000006.11:g.42934365C>G
NC_000006.11:g.42934365C>G
NM_000287.3:c.1992G>C
NR_133009.2:n.2023G>C

Protein change:

E576D

Links:

dbSNP: rs267608230

NCBI 1000 Genomes Browser:

rs267608230

Molecular consequence:

NM_000287.4:c.1992G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001316313.2:c.1728G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_133009.2:n.2023G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Name:: Heimler syndrome 2 (HMLR2)
Synonyms:: PEROXISOME BIOGENESIS DISORDER 4C
Identifiers:: MedGen: C4225267; Orphanet: 3220; OMIM: 616617

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Limbic Lobe
Limbic Lobe
The medial surface of the cerebral hemisphere around the brain stem.<br/>Year introduced: 2015

MeSH
Substantia Innominata
Substantia Innominata
Tissue in the BASAL FOREBRAIN inferior to the anterior perforated substance, and anterior to the GLOBUS PALLIDUS and ansa lenticularis. It contains the BASAL NUCLEUS OF MEYNER...<br/>Year introduced: 1991(1984)

MeSH
Hypothalamus
Hypothalamus
Ventral part of the DIENCEPHALON extending from the region of the OPTIC CHIASM to the caudal border of the MAMMILLARY BODIES and forming the inferior and lateral walls of the ...<br/>

MeSH
Glymphatic System
Glymphatic System
A vascular waste clearance system in the brain analogous to the lymphatic system that facilitates transporting of solutes and waste products from CEREBROSPINAL FLUID (CSF) and...<br/>Year introduced: 2019

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002782887	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 13, 2021)	unknown	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

SCV002782887

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 13, 2021)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002782887.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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