NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 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:: RCV000666386.1

Allele description [Variation Report for NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)]

NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)

Gene:

PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p36.32

Genomic location:

Preferred name:

NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)

HGVS:

NC_000001.11:g.2406515CAG[1]
NG_008342.1:g.11052CTG[1]
NG_016128.1:g.19741CAG[1]
NM_001374425.1:c.933CTG[1]
NM_001374426.1:c.501CTG[1]
NM_001374427.1:c.444CTG[1]
NM_002617.4:c.876CTG[1]MANE SELECT
NM_153818.2:c.936CTG[1]
NP_001361354.1:p.Cys312del
NP_001361355.1:p.Cys168del
NP_001361356.1:p.Cys149del
NP_002608.1:p.Cys293del
NP_722540.1:p.Cys313del
NC_000001.10:g.2337954CAG[1]
NM_153818.1:c.939_941delCTG
NR_164636.1:n.991CTG[1]

Protein change:

C149del

Links:

dbSNP: rs1438047457

NCBI 1000 Genomes Browser:

rs1438047457

Molecular consequence:

NM_001374425.1:c.933CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374426.1:c.501CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374427.1:c.444CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002617.4:c.876CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_153818.2:c.936CTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_164636.1:n.991CTG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Peroxisome biogenesis disorder 6A (Zellweger)
Synonyms:: Peroxisome biogenesis disorder 6A
Identifiers:: MONDO: MONDO:0013936; MedGen: C3553947; Orphanet: 912; OMIM: 614870

Name:: Peroxisome biogenesis disorder 6B (PBD6B)
Identifiers:: MONDO: MONDO:0013937; MedGen: C3553948; Orphanet: 44; OMIM: 614871

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790669	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 31, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790669

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Mar 31, 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, SCV000790669.1

#	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: Apr 23, 2022

ClinVar

Relating variation to medicine