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NM_002617.4(PEX10):c.600+1del AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 11, 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:
RCV000668691.1

Allele description [Variation Report for NM_002617.4(PEX10):c.600+1del]

NM_002617.4(PEX10):c.600+1del

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.600+1del
HGVS:
  • NC_000001.11:g.2408451del
  • NG_008342.1:g.9121del
  • NM_001374425.1:c.600+1del
  • NM_001374426.1:c.168+1del
  • NM_001374427.1:c.168+1del
  • NM_002617.4:c.600+1delMANE SELECT
  • NM_153818.2:c.600+1del
  • NC_000001.10:g.2339890del
  • NM_153818.1:c.600+1delG
Links:
dbSNP: rs1553232077
NCBI 1000 Genomes Browser:
rs1553232077
Molecular consequence:
  • NM_001374425.1:c.600+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374426.1:c.168+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374427.1:c.168+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_002617.4:c.600+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_153818.2:c.600+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000793335Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Aug 11, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000793335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023