NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) AND Peroxisome biogenesis disorder 3A (Zellweger)

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000502221.6

Allele description [Variation Report for NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)]

NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)

Gene:

PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)

HGVS:

NC_000017.11:g.35577185TGT[1]
NG_008447.1:g.6450AAC[1]
NM_000286.3:c.530AAC[1]MANE SELECT
NM_000286.3:c.533_535delAAC
NP_000277.1:p.Gln178del
NC_000017.10:g.33904204TGT[1]
NM_000286.2:c.533_535delAAC
NM_000286.3:c.530_532delMANE SELECT
NM_000286.3:c.533_535delMANE SELECT
NM_000286.3:c.533_535delAACMANE SELECT

Protein change:

Q178del

Links:

dbSNP: rs61752102

NCBI 1000 Genomes Browser:

rs61752102

Molecular consequence:

NM_000286.3:c.530AAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Peroxisome biogenesis disorder 3A (Zellweger)
Synonyms:: PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A
Identifiers:: MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

Recent activity

Clear Turn Off Turn On

Xpo5 [Microtus ochrogaster]
Xpo5 [Microtus ochrogaster]
Gene ID:101985627

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000590930	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 3, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004201452	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 29, 2024)	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

SCV000590930

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 3, 2020)

unknown

clinical testing

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

SCV004201452

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 29, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000590930.2

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004201452.2

#	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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine