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NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) AND Peroxisome biogenesis disorder, complementation group 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 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:
RCV001904736.5

Allele description [Variation Report for NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)]

NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)

Gene:
PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
HGVS:
  • NC_000001.11:g.2408833G>C
  • NG_008342.1:g.8739C>G
  • NM_001374425.1:c.219C>G
  • NM_001374426.1:c.-214C>G
  • NM_001374427.1:c.-214C>G
  • NM_002617.4:c.219C>GMANE SELECT
  • NM_153818.2:c.219C>G
  • NP_001361354.1:p.Tyr73Ter
  • NP_002608.1:p.Tyr73Ter
  • NP_722540.1:p.Tyr73Ter
  • NC_000001.10:g.2340272G>C
  • NR_164636.1:n.338C>G
Protein change:
Y73*
Links:
dbSNP: rs531987102
NCBI 1000 Genomes Browser:
rs531987102
Molecular consequence:
  • NM_001374426.1:c.-214C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374427.1:c.-214C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_164636.1:n.338C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001374425.1:c.219C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002617.4:c.219C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153818.2:c.219C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder, complementation group 7 (CG7)
Synonyms:
Peroxisome biogenesis disorder, complementation group B
Identifiers:
MedGen: C1864399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002120026Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 4, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ.

Am J Hum Genet. 1998 Aug;63(2):347-59.

PubMed [citation]
PMID:
9683594
PMCID:
PMC1377304

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

Warren DS, Wolfe BD, Gould SJ.

Hum Mutat. 2000;15(6):509-21.

PubMed [citation]
PMID:
10862081
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002120026.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

ClinVar contains an entry for this variant (Variation ID: 1360138). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr73*) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 16, 2025