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NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2024
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:
RCV003987452.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)]

NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
HGVS:
  • NC_000006.12:g.42969720_42969727del
  • NG_008370.1:g.14523_14530del
  • NM_000287.4:c.1314_1321delMANE SELECT
  • NM_001316313.2:c.1050_1057del
  • NP_000278.3:p.Glu439fs
  • NP_001303242.1:p.Glu351fs
  • NC_000006.11:g.42937452_42937459del
  • NC_000006.11:g.42937458_42937465del
  • NM_000287.3:c.1314_1321del
  • NM_000287.3:c.1314_1321delGGAGGCCT
  • NM_000287.4:c.1314_1321delGGAGGCCTMANE SELECT
  • NR_133009.2:n.1345_1352del
Protein change:
E351fs
Links:
dbSNP: rs267608216
NCBI 1000 Genomes Browser:
rs267608216
Molecular consequence:
  • NM_000287.4:c.1314_1321del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316313.2:c.1050_1057del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133009.2:n.1345_1352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
Synonyms:
Zellweger syndrome spectrum (PEX6-related)
Identifiers:
MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862
Name:
Peroxisome biogenesis disorder 4B (PBD4B)
Identifiers:
MONDO: MONDO:0013931; MedGen: C3553937; Orphanet: 44; OMIM: 614863
Name:
Heimler syndrome 2 (HMLR2)
Synonyms:
PEROXISOME BIOGENESIS DISORDER 4C
Identifiers:
MedGen: C4225267; Orphanet: 3220; OMIM: 616617

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004803207Institute of Immunology and Genetics Kaiserslautern
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 18, 2024) 		maternalclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Immunology and Genetics Kaiserslautern, SCV004803207.1

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

Description

ACMG Criteria: PVS1, PS3, PM3, PP5; Individual was compound heterozygous for PEX6 variants c.1314_1321del and c.1802G>A

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

Last Updated: Nov 24, 2024