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NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 19, 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:
RCV000669443.1

Allele description [Variation Report for NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)]

NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)

Gene:
PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.13
Genomic location:
Preferred name:
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)
HGVS:
  • NC_000008.11:g.76983473_76983478del
  • NG_008371.1:g.21811_21816del
  • NM_000318.3:c.701_706delMANE SELECT
  • NM_001079867.2:c.701_706del
  • NM_001172086.2:c.701_706del
  • NM_001172087.2:c.701_706del
  • NP_000309.2:p.Asp234_Thr236delinsAla
  • NP_001073336.2:p.Asp234_Thr236delinsAla
  • NP_001165557.2:p.Asp234_Thr236delinsAla
  • NP_001165558.2:p.Asp234_Thr236delinsAla
  • NC_000008.10:g.77895709_77895714del
  • NM_000318.2:c.701_706del6
Links:
dbSNP: rs1554584423
NCBI 1000 Genomes Browser:
rs1554584423
Molecular consequence:
  • NM_000318.3:c.701_706del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001079867.2:c.701_706del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001172086.2:c.701_706del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001172087.2:c.701_706del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Peroxisome biogenesis disorder 5A (Zellweger) (PBD5A)
Identifiers:
MONDO: MONDO:0013932; MedGen: C3553940; Orphanet: 912; OMIM: 614866
Name:
Peroxisome biogenesis disorder 5B (PBD5B)
Identifiers:
MONDO: MONDO:0013933; MedGen: C3542026; Orphanet: 44; OMIM: 614867

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794196Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Sep 19, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794196.1

#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: Apr 23, 2022