NM_000286.3(PEX12):c.687_690del (p.Ser229fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 2, 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:: RCV000667506.1

Allele description [Variation Report for NM_000286.3(PEX12):c.687_690del (p.Ser229fs)]

NM_000286.3(PEX12):c.687_690del (p.Ser229fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000286.3(PEX12):c.687_690del (p.Ser229fs)

HGVS:

NC_000017.11:g.35576174_35576177del
NG_008447.1:g.7463_7466del
NM_000286.3:c.687_690delMANE SELECT
NP_000277.1:p.Ser229fs
NC_000017.10:g.33903193_33903196del
NM_000286.2:c.687_690delTGAG

Protein change:

S229fs

Links:

dbSNP: rs1555549769

NCBI 1000 Genomes Browser:

rs1555549769

Molecular consequence:

NM_000286.3:c.687_690del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Peroxisome biogenesis disorder type 3B
Identifiers:: MONDO: MONDO:0009959; MedGen: C3550693; Orphanet: 44; OMIM: 266510

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791968	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 2, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791968

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 2, 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, SCV000791968.1

#	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: Apr 6, 2024

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