NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 7, 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:: RCV000668131.1

Allele description [Variation Report for NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)]

NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)

Gene:

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

Variant type:

Inversion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)

HGVS:

NC_000017.11:g.35577287_35577289inv
NG_008447.1:g.6349_6351inv
NM_000286.3:c.429_431invMANE SELECT
NP_000277.1:p.Tyr143_Ser144delinsTer
NC_000017.10:g.33904306_33904308inv
NM_000286.2:c.429_431delTTCinsGAA

Molecular consequence:

NM_000286.3:c.429_431inv - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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opsin-5 [Rattus norvegicus]
opsin-5 [Rattus norvegicus]
gi|1940128060|ref|NP_001376199.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792682	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jul 7, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792682

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jul 7, 2017)

unknown

clinical testing

Citation Link

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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, SCV000792682.1

#	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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