NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 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:: RCV000672797.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)]

NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)

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.1238G>T (p.Gly413Val)

HGVS:

NC_000006.12:g.42969797C>A
NG_008370.1:g.14447G>T
NM_000287.4:c.1238G>TMANE SELECT
NM_001316313.2:c.974G>T
NP_000278.3:p.Gly413Val
NP_001303242.1:p.Gly325Val
NC_000006.11:g.42937535C>A
NM_000287.3:c.1238G>T
NR_133009.2:n.1269G>T

Protein change:

G325V; GLY413VAL

Links:

OMIM: 601498.0016; dbSNP: rs1554127531

NCBI 1000 Genomes Browser:

rs1554127531

Molecular consequence:

NM_000287.4:c.1238G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001316313.2:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_133009.2:n.1269G>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797940	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 15, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797940

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 15, 2018)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.

Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14.

PubMed [citation]

PMID:: 26593283

Details of each submission

From Counsyl, SCV000797940.1

#	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: Jul 15, 2024

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