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NM_000288.4(PEX7):c.774_784del (p.Ala259fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
May 3, 2016
Accession:
VCV000370864.1
Variation ID:
370864
Description:
11bp deletion
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NM_000288.4(PEX7):c.774_784del (p.Ala259fs)

Allele ID
357434
Variant type
Deletion
Variant length
11 bp
Cytogenetic location
6q23.3
Genomic location
6: 136872220-136872230 (GRCh38) GRCh38 UCSC
6: 137193358-137193368 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.137193362_137193372del
NC_000006.12:g.136872224_136872234del
NG_008462.1:g.54645_54655del
NM_000288.4:c.774_784del MANE Select NP_000279.1:p.Ala259fs frameshift
Protein change
A259fs
Other names
-
Canonical SPDI
NC_000006.12:136872219:TGCTGGCCTCTTGCT:TGCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041020
dbSNP: rs1057516824
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 3, 2016 RCV000410971.1
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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 03, 2016)
criteria provided, single submitter
Method: clinical testing
Rhizomelic chondrodysplasia punctata type 1
Allele origin: unknown
Counsyl
Accession: SCV000486288.1
Submitted: (Nov 23, 2016)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057516824...

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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