NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 26, 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:: RCV002558573.2

Allele description [Variation Report for NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)]

NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)

Gene:

PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)

HGVS:

NC_000006.12:g.42966812C>T
NG_008370.1:g.17432G>A
NM_000287.4:c.1931G>AMANE SELECT
NM_001316313.2:c.1667G>A
NP_000278.3:p.Arg644Gln
NP_001303242.1:p.Arg556Gln
NC_000006.11:g.42934550C>T
NM_000287.3:c.1931G>A
NR_133009.2:n.1962G>A

Protein change:

R556Q

Links:

dbSNP: rs746117128

NCBI 1000 Genomes Browser:

rs746117128

Molecular consequence:

NM_000287.4:c.1931G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001316313.2:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_133009.2:n.1962G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcri...
PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcript variant X3, mRNA
gi|2678945297|ref|XM_008763886.3|

Nucleotide
PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcri...
PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcript variant X2, mRNA
gi|1958777278|ref|XM_039110289.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003757200	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003757200

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 26, 2021)

germline

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

Details of each submission

From Ambry Genetics, SCV003757200.2

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

Description

The c.1931G>A (p.R644Q) alteration is located in exon 9 (coding exon 9) of the PEX6 gene. This alteration results from a G to A substitution at nucleotide position 1931, causing the arginine (R) at amino acid position 644 to be replaced by a glutamine (Q). 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: Sep 29, 2024

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