NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) AND Heimler syndrome 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 20, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000240725.5

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:: Heimler syndrome 2 (HMLR2)
Synonyms:: PEROXISOME BIOGENESIS DISORDER 4C
Identifiers:: MedGen: C4225267; Orphanet: 3220; OMIM: 616617

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264804	Leeds Amelogenesis Imperfecta Research Group, University of Leeds	criteria provided, single submitter (Submitter's publication)	Pathogenic (Oct 1, 2015)	germline	research	PubMed (3) [See all records that cite these PMIDs] 19142205, 19877282, 27302843
SCV004201523	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 20, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264804

Leeds Amelogenesis Imperfecta Research Group, University of Leeds

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Oct 1, 2015)

germline

research

PubMed (3)
[See all records that cite these PMIDs]

SCV004201523

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 20, 2024)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Northern European	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Krause C, Rosewich H, Gärtner J.

Eur J Hum Genet. 2009 Jun;17(6):741-8. doi: 10.1038/ejhg.2008.252. Epub 2009 Jan 14.

PubMed [citation]

PMID:: 19142205
PMCID:: PMC2947092

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS, Kofster J, Wanders RJ, Waterham HR.

Hum Mutat. 2010 Jan;31(1):E1058-70. doi: 10.1002/humu.21153.

PubMed [citation]

PMID:: 19877282

See all PubMed Citations (4)

Details of each submission

From Leeds Amelogenesis Imperfecta Research Group, University of Leeds, SCV000264804.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Northern European	not provided	not provided	not provided	research	PubMed (3)

Description

Papers report individuals with c.1314_1321delGGAGGCCT variants

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004201523.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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