NM_000288.4(PEX7):c.803+5A>G AND Rhizomelic chondrodysplasia punctata type 1

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV001009549.1

Allele description [Variation Report for NM_000288.4(PEX7):c.803+5A>G]

NM_000288.4(PEX7):c.803+5A>G

Gene:

PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

Preferred name:

NM_000288.4(PEX7):c.803+5A>G

HGVS:

NC_000006.12:g.136872258A>G
NG_008462.1:g.54679A>G
NM_000288.4:c.803+5A>GMANE SELECT
NC_000006.11:g.137193396A>G

Links:

dbSNP: rs759078908

NCBI 1000 Genomes Browser:

rs759078908

Molecular consequence:

NM_000288.4:c.803+5A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:: Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:: MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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
SCV001169645	GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001169645

GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies

no classification provided

not provided

unknown

phenotyping only

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	phenotyping only

Details of each submission

From GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies, SCV001169645.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Uncertain significance and reported on 01-05-2017 by GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

#	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: Feb 7, 2023

ClinVar

Relating variation to medicine