Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
May 24, 2017
Accession:
VCV000552148.1
Variation ID:
552148
Description:
4bp deletion
Help

NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)

Allele ID
544069
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
6q23.3
Genomic location
6: 136898208-136898211 (GRCh38) GRCh38 UCSC
6: 137219346-137219349 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137219347_137219350del
NC_000006.12:g.136898209_136898212del
NG_008462.1:g.80630_80633del
NM_000288.4:c.871_874del MANE Select NP_000279.1:p.Cys290_Gly291insTer nonsense
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:136898207:TGGTT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554335937
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 24, 2017 RCV000667366.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX7 - - GRCh38
GRCh37
291 310

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 24, 2017)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: unknown
Counsyl
Accession: SCV000791800.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells. Mukai S The Journal of biological chemistry 2002 PMID: 11756410

Text-mined citations for rs1554335937...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021