NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Jul 1, 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:: RCV001546509.14

Allele description [Variation Report for NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)]

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

Gene:

PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.13

Genomic location:

Preferred name:

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

HGVS:

NC_000008.11:g.76984088G>C
NG_008371.1:g.21201C>G
NM_000318.3:c.91C>GMANE SELECT
NM_001079867.2:c.91C>G
NM_001172086.2:c.91C>G
NM_001172087.2:c.91C>G
NP_000309.1:p.Gln31Glu
NP_000309.2:p.Gln31Glu
NP_001073336.2:p.Gln31Glu
NP_001165557.1:p.Gln31Glu
NP_001165557.2:p.Gln31Glu
NP_001165558.2:p.Gln31Glu
NC_000008.10:g.77896324G>C
NM_000318.2:c.91C>G
NM_001172086.1:c.91C>G

Protein change:

Q31E

Links:

dbSNP: rs149287302

NCBI 1000 Genomes Browser:

rs149287302

Molecular consequence:

NM_000318.3:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079867.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001172086.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001172087.2:c.91C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV001766039	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 16, 2019)	germline	clinical testing	Citation Link,
SCV001918950	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001966185	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004155971	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2024)	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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001766039.1

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001918950.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966185.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004155971.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

PEX2: BS2

#	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		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) AND not provided

Allele description [Variation Report for NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)]

NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From GeneDx, SCV001766039.1

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001918950.1

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966185.1

From CeGaT Center for Human Genetics Tuebingen, SCV004155971.10

Description