NM_016559.3(PEX5L):c.916G>C (p.Val306Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 3, 2021
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:: RCV004222462.1

Allele description [Variation Report for NM_016559.3(PEX5L):c.916G>C (p.Val306Leu)]

NM_016559.3(PEX5L):c.916G>C (p.Val306Leu)

Gene:

PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_016559.3(PEX5L):c.916G>C (p.Val306Leu)

HGVS:

NC_000003.12:g.179819883C>G
NM_001256750.2:c.910G>C
NM_001256751.2:c.844G>C
NM_001256752.2:c.811G>C
NM_001256753.2:c.739G>C
NM_001256754.2:c.787G>C
NM_001256755.2:c.592G>C
NM_001256756.2:c.340G>C
NM_001349386.2:c.1081G>C
NM_001349387.2:c.988G>C
NM_001349388.2:c.988G>C
NM_001349389.2:c.982G>C
NM_001349390.2:c.976G>C
NM_001349391.2:c.886G>C
NM_001349392.2:c.883G>C
NM_001349393.2:c.883G>C
NM_001349394.2:c.793G>C
NM_001349395.2:c.787G>C
NM_001349396.2:c.715G>C
NM_001349397.2:c.688G>C
NM_001349398.2:c.649G>C
NM_001349399.2:c.340G>C
NM_001349401.2:c.340G>C
NM_001349404.2:c.340G>C
NM_001349406.2:c.340G>C
NM_001349408.2:c.340G>C
NM_001349409.2:c.340G>C
NM_001349410.2:c.340G>C
NM_016559.3:c.916G>CMANE SELECT
NP_001243679.1:p.Val304Leu
NP_001243680.1:p.Val282Leu
NP_001243681.1:p.Val271Leu
NP_001243682.1:p.Val247Leu
NP_001243683.1:p.Val263Leu
NP_001243684.1:p.Val198Leu
NP_001243685.1:p.Val114Leu
NP_001336315.1:p.Val361Leu
NP_001336316.1:p.Val330Leu
NP_001336317.1:p.Val330Leu
NP_001336318.1:p.Val328Leu
NP_001336319.1:p.Val326Leu
NP_001336320.1:p.Val296Leu
NP_001336321.1:p.Val295Leu
NP_001336322.1:p.Val295Leu
NP_001336323.1:p.Val265Leu
NP_001336324.1:p.Val263Leu
NP_001336325.1:p.Val239Leu
NP_001336326.1:p.Val230Leu
NP_001336327.1:p.Val217Leu
NP_001336328.1:p.Val114Leu
NP_001336330.1:p.Val114Leu
NP_001336333.1:p.Val114Leu
NP_001336335.1:p.Val114Leu
NP_001336337.1:p.Val114Leu
NP_001336338.1:p.Val114Leu
NP_001336339.1:p.Val114Leu
NP_057643.1:p.Val306Leu
NC_000003.11:g.179537671C>G
NM_016559.1:c.916G>C
NR_146167.2:n.996G>C

Protein change:

V114L

Molecular consequence:

NM_001256750.2:c.910G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256751.2:c.844G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256752.2:c.811G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256753.2:c.739G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256754.2:c.787G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256755.2:c.592G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256756.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349386.2:c.1081G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349387.2:c.988G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349388.2:c.988G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349389.2:c.982G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349390.2:c.976G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349391.2:c.886G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349392.2:c.883G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349393.2:c.883G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349394.2:c.793G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349395.2:c.787G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349396.2:c.715G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349397.2:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349398.2:c.649G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349399.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349401.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349404.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349406.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349408.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349409.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349410.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016559.3:c.916G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_146167.2:n.996G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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SAMN03703960 (1)
SRA
Leptolegnia caudata strain PelLC internal transcribed spacer 1, partial sequence...
Leptolegnia caudata strain PelLC internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|961683646|gb|KP941577.1|

Nucleotide
NFY protein [Zingiber officinale]
NFY protein [Zingiber officinale]
gi|2562719923|gb|WLQ69710.1|

Protein
beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2 [Homo sapiens]
beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2 [Homo sapiens]
gi|261824031|ref|NP_001159815.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003734471	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 3, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003734471

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 3, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003734471.2

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

Description

The c.916G>C (p.V306L) alteration is located in exon 9 (coding exon 9) of the PEX5L gene. This alteration results from a G to C substitution at nucleotide position 916, causing the valine (V) at amino acid position 306 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Oct 26, 2024

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