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NM_000286.3(PEX12):c.223_224del (p.Leu75fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 6, 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:
RCV000664813.1

Allele description [Variation Report for NM_000286.3(PEX12):c.223_224del (p.Leu75fs)]

NM_000286.3(PEX12):c.223_224del (p.Leu75fs)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
HGVS:
  • NC_000017.11:g.35577495_35577496del
  • NG_008447.1:g.6143_6144del
  • NM_000286.3:c.223_224delMANE SELECT
  • NP_000277.1:p.Leu75fs
  • NC_000017.10:g.33904513_33904514del
  • NC_000017.10:g.33904514_33904515del
  • NM_000286.2:c.223_224delCT
Protein change:
L75fs
Links:
dbSNP: rs1555549876
NCBI 1000 Genomes Browser:
rs1555549876
Molecular consequence:
  • NM_000286.3:c.223_224del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peroxisome biogenesis disorder type 3B
Identifiers:
MONDO: MONDO:0009959; MedGen: C3550693; Orphanet: 44; OMIM: 266510
Name:
Peroxisome biogenesis disorder 3A (Zellweger)
Synonyms:
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A
Identifiers:
MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788828Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jan 6, 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, SCV000788828.1

#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: Sep 29, 2024