NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 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:: RCV000667565.1

Allele description [Variation Report for NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)]

NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)

HGVS:

NC_000006.12:g.42978874_42978879dup
NG_008370.1:g.5368_5373dup
NM_000287.4:c.275_280dupMANE SELECT
NM_001316313.2:c.275_280dup
NP_000278.3:p.Val92_Arg93dup
NP_001303242.1:p.Val92_Arg93dup
NC_000006.11:g.42946608_42946609insCCCGCA
NC_000006.11:g.42946612_42946617dup
NM_000287.3:c.275_280dupTGCGGG
NR_133009.2:n.306_311dup

Links:

dbSNP: rs61752142

NCBI 1000 Genomes Browser:

rs61752142

Molecular consequence:

NM_000287.4:c.275_280dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001316313.2:c.275_280dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_133009.2:n.306_311dup - 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

Recent activity

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GO-Aug-20-3A-R
GO-Aug-20-3A-R

biosample
GO-Aug-20-3B-B
GO-Aug-20-3B-B

biosample
Luciobarbus lanigarensis isolate LO4 cytochrome b (Cytb) gene, partial cds; mito...
Luciobarbus lanigarensis isolate LO4 cytochrome b (Cytb) gene, partial cds; mitochondrial
gi|1496234803|gb|MH187174.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792039	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 6, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792039

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jun 6, 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, SCV000792039.1

#	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: Sep 29, 2024

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