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NM_002617.4(PEX10):c.815del (p.Leu272fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 28, 2017
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:
RCV000671093.1

Allele description [Variation Report for NM_002617.4(PEX10):c.815del (p.Leu272fs)]

NM_002617.4(PEX10):c.815del (p.Leu272fs)

Gene:
PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_002617.4(PEX10):c.815del (p.Leu272fs)
HGVS:
  • NC_000001.11:g.2406581del
  • NG_008342.1:g.10991del
  • NG_016128.1:g.19807del
  • NM_001374425.1:c.872del
  • NM_001374426.1:c.440del
  • NM_001374427.1:c.383del
  • NM_002617.4:c.815delMANE SELECT
  • NM_153818.2:c.875del
  • NP_001361354.1:p.Leu291fs
  • NP_001361355.1:p.Leu147fs
  • NP_001361356.1:p.Leu128fs
  • NP_002608.1:p.Leu272fs
  • NP_722540.1:p.Leu292fs
  • NC_000001.10:g.2338020del
  • NM_153818.1:c.875delT
  • NR_164636.1:n.930del
Protein change:
L128fs
Links:
dbSNP: rs1553231783
NCBI 1000 Genomes Browser:
rs1553231783
Molecular consequence:
  • NM_001374425.1:c.872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374426.1:c.440del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374427.1:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002617.4:c.815del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153818.2:c.875del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_164636.1:n.930del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 6A (Zellweger)
Synonyms:
Peroxisome biogenesis disorder 6A
Identifiers:
MONDO: MONDO:0013936; MedGen: C3553947; Orphanet: 912; OMIM: 614870
Name:
Peroxisome biogenesis disorder 6B (PBD6B)
Identifiers:
MONDO: MONDO:0013937; MedGen: C3553948; Orphanet: 44; OMIM: 614871

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796038Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Nov 28, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Counsyl, SCV000796038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022