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NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
May 19, 2016
Accession:
VCV000370938.1
Variation ID:
370938
Description:
single nucleotide variant
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NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)

Allele ID
357422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 137143863 (GRCh37) GRCh37 UCSC
6: 136822725 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137143863C>G
NC_000006.12:g.136822725C>G
NG_008462.1:g.5146C>G
NM_000288.4:c.60C>G MANE Select NP_000279.1:p.Tyr20Ter nonsense
Protein change
Y20*
Other names
-
Canonical SPDI
NC_000006.12:136822724:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041009
dbSNP: rs1057516882
VarSome
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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 19, 2016 RCV000411102.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 19, 2016)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: unknown
Counsyl
Accession: SCV000486374.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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Title Author Journal Year Link
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Motley AM American journal of human genetics 2002 PMID: 11781871

Text-mined citations for rs1057516882...

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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