NM_000287.4(PEX6):c.2082del (p.Gly695fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 8, 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:: RCV000668636.1

Allele description [Variation Report for NM_000287.4(PEX6):c.2082del (p.Gly695fs)]

NM_000287.4(PEX6):c.2082del (p.Gly695fs)

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.2082del (p.Gly695fs)

HGVS:

NC_000006.12:g.42966538del
NG_008370.1:g.17707del
NM_000287.4:c.2082delMANE SELECT
NM_001316313.2:c.1818del
NP_000278.3:p.Gly695fs
NP_001303242.1:p.Gly607fs
NC_000006.11:g.42934275del
NC_000006.11:g.42934276del
NM_000287.3:c.2082del
NM_000287.3:c.2082delT
NR_133009.2:n.2113del

Protein change:

G607fs

Links:

dbSNP: rs766483138

NCBI 1000 Genomes Browser:

rs766483138

Molecular consequence:

NM_000287.4:c.2082del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316313.2:c.1818del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_133009.2:n.2113del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793270	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Aug 8, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793270

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Aug 8, 2017)

unknown

clinical testing

Citation Link

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

Details of each submission

From Counsyl, SCV000793270.1

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

#	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: Sep 29, 2024

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