NM_004813.4(PEX16):c.679C>G (p.Arg227Gly) AND Peroxisome biogenesis disorder 8B

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 24, 2023
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:: RCV003229529.1

Allele description [Variation Report for NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)]

NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)

Gene:

PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)

HGVS:

NC_000011.10:g.45914331G>C
NG_008460.1:g.8793C>G
NG_008460.2:g.9491C>G
NM_004813.4:c.679C>GMANE SELECT
NM_057174.3:c.679C>G
NP_004804.2:p.Arg227Gly
NP_476515.2:p.Arg227Gly
NC_000011.9:g.45935882G>C
NM_057174.2:c.679C>G

Protein change:

R227G

Molecular consequence:

NM_004813.4:c.679C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_057174.3:c.679C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Peroxisome biogenesis disorder 8B (PBD8B)
Identifiers:: MONDO: MONDO:0013943; MedGen: C3553960; Orphanet: 44; OMIM: 614877

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925779	Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 24, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925779

Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 24, 2023)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	no	2	1	not provided	not provided	not provided	research
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV003925779.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	2	not provided	not provided	research	PubMed (1)
2	Caucasian	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		2	not provided	1	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 3, 2023

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