NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) AND PEX12-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 14, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004549498.2

Allele description [Variation Report for NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)]

NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)

HGVS:

NC_000017.11:g.35577920T>A
NG_008447.1:g.5718A>T
NM_000286.3:c.102A>TMANE SELECT
NP_000277.1:p.Arg34Ser
NP_000277.1:p.Arg34Ser
NC_000017.10:g.33904939T>A
NM_000286.2:c.102A>T
O00623:p.Arg34Ser

Protein change:

R34S

Links:

UniProtKB: O00623#VAR_058389; dbSNP: rs147530802

NCBI 1000 Genomes Browser:

rs147530802

Molecular consequence:

NM_000286.3:c.102A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PEX12-related disorder
Synonyms:: PEX12-related disorders; PEX12-related condition
Identifiers:

Recent activity

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ribosomal protein S11 homolog [Leishmania infantum JPCM5]
ribosomal protein S11 homolog [Leishmania infantum JPCM5]
gi|146085475|ref|XP_001465286.1|

Protein
fidgetin-like protein 1 isoform X2 [Rattus norvegicus]
fidgetin-like protein 1 isoform X2 [Rattus norvegicus]
gi|2678894500|ref|XP_063129023.1|

Protein
Rattus norvegicus RAS protein-specific guanine nucleotide-releasing factor 2 (Ra...
Rattus norvegicus RAS protein-specific guanine nucleotide-releasing factor 2 (Rasgrf2), mRNA
gi|2709255016|ref|NM_053721.3|

Nucleotide
MERRF Syndrome
MERRF Syndrome
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrop...<br/>Year introduced: 1993

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004797104	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Feb 14, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004797104

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Feb 14, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004797104.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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