NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) AND Peroxisome biogenesis disorder 4B

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 6, 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:: RCV000735223.3

Allele description [Variation Report for NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)]

NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)

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.273G>A (p.Trp91Ter)

HGVS:

NC_000006.12:g.42978878C>T
NG_008370.1:g.5366G>A
NM_000287.4:c.273G>AMANE SELECT
NM_001316313.2:c.273G>A
NP_000278.3:p.Trp91Ter
NP_001303242.1:p.Trp91Ter
NC_000006.11:g.42946616C>T
NM_000287.3:c.273G>A
NR_133009.2:n.304G>A

Protein change:

W91*

Links:

dbSNP: rs1010184002

NCBI 1000 Genomes Browser:

rs1010184002

Molecular consequence:

NR_133009.2:n.304G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000287.4:c.273G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001316313.2:c.273G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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
SCV000797119	Counsyl	no assertion criteria provided	Likely pathogenic (Jan 12, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000863431	Undiagnosed Diseases Network, NIH	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 6, 2018)	paternal	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

SCV000797119

Counsyl

no assertion criteria provided

Likely pathogenic
(Jan 12, 2018)

unknown

clinical testing

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

SCV000863431

Undiagnosed Diseases Network, NIH

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 6, 2018)

paternal

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
White	paternal	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Westerfield LE, Stover SR, Mathur VS, Nassef SA, Carter TG, Yang Y, Eng CM, Van den Veyver IB.

Prenat Diagn. 2015 Oct;35(10):1022-9. doi: 10.1002/pd.4674. Epub 2015 Sep 4.

PubMed [citation]

PMID:: 26275793

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 Counsyl, SCV000797119.2

#	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

From Undiagnosed Diseases Network, NIH, SCV000863431.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	1	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	paternal	yes	not provided	blood	not provided		1	not provided	1	not provided

Last Updated: Nov 24, 2024

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