NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 11, 2018
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:: RCV000726787.5

Allele description [Variation Report for NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)]

NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)

Gene:

PEX5:peroxisomal biogenesis factor 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)

HGVS:

NC_000012.12:g.7199058C>G
NG_008448.1:g.14896C>G
NM_000319.5:c.496C>G
NM_001131023.2:c.541C>G
NM_001131024.2:c.496C>G
NM_001131025.2:c.496C>G
NM_001131026.2:c.496C>G
NM_001300789.3:c.496C>G
NM_001351124.3:c.496C>G
NM_001351126.2:c.496C>G
NM_001351127.2:c.496C>G
NM_001351128.2:c.496C>G
NM_001351130.3:c.496C>G
NM_001351131.2:c.496C>G
NM_001351132.2:c.496C>GMANE SELECT
NM_001351133.2:c.496C>G
NM_001351134.2:c.496C>G
NM_001351135.3:c.541C>G
NM_001351136.2:c.496C>G
NM_001351137.3:c.496C>G
NM_001351138.2:c.541C>G
NM_001351139.2:c.496C>G
NM_001351140.2:c.496C>G
NM_001374645.1:c.496C>G
NM_001374646.1:c.496C>G
NM_001374647.2:c.496C>G
NM_001374648.2:c.496C>G
NM_001374649.2:c.496C>G
NP_000310.2:p.Gln166Glu
NP_001124495.1:p.Gln181Glu
NP_001124496.1:p.Gln166Glu
NP_001124497.1:p.Gln166Glu
NP_001124497.1:p.Gln166Glu
NP_001124498.1:p.Gln166Glu
NP_001287718.2:p.Gln166Glu
NP_001338053.1:p.Gln166Glu
NP_001338055.1:p.Gln166Glu
NP_001338056.1:p.Gln166Glu
NP_001338057.1:p.Gln166Glu
NP_001338059.1:p.Gln166Glu
NP_001338060.1:p.Gln166Glu
NP_001338061.1:p.Gln166Glu
NP_001338062.1:p.Gln166Glu
NP_001338063.1:p.Gln166Glu
NP_001338064.2:p.Gln181Glu
NP_001338065.1:p.Gln166Glu
NP_001338066.2:p.Gln166Glu
NP_001338067.1:p.Gln181Glu
NP_001338068.1:p.Gln166Glu
NP_001338069.1:p.Gln166Glu
NP_001361574.1:p.Gln166Glu
NP_001361575.1:p.Gln166Glu
NP_001361576.1:p.Gln166Glu
NP_001361577.1:p.Gln166Glu
NP_001361578.1:p.Gln166Glu
NC_000012.11:g.7351654C>G
NM_001131025.1:c.496C>G

Protein change:

Q166E

Links:

dbSNP: rs751043763

NCBI 1000 Genomes Browser:

rs751043763

Molecular consequence:

NM_000319.5:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001131023.2:c.541C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001131024.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001131025.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001131026.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300789.3:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351124.3:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351126.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351127.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351128.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351130.3:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351131.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351132.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351133.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351134.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351135.3:c.541C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351136.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351137.3:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351138.2:c.541C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351139.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351140.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374645.1:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374646.1:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374647.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374648.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374649.2:c.496C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617887	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Nov 11, 2015)	germline	clinical testing	Citation Link,
SCV000703028	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 11, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617887

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Nov 11, 2015)

germline

clinical testing

Citation Link,

SCV000703028

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 11, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000617887.2

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

Description

The Q166E variant in the PEX5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q166E variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q166E variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q166E as a variant of uncertain significance.

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

From Eurofins Ntd Llc (ga), SCV000703028.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: May 1, 2024

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