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NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 9, 2017)
Last evaluated:
Aug 30, 2017
Accession:
VCV000488390.1
Variation ID:
488390
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter)

Allele ID
481232
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48586983 (GRCh38) GRCh38 UCSC
3: 48624416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.13270C>T
LRG_286t1:c.3265C>T LRG_286p1:p.Gln1089Ter
NC_000003.11:g.48624416G>A
... more HGVS
Protein change
Q1089*
Other names
-
Canonical SPDI
NC_000003.12:48586982:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA352708242
dbSNP: rs1553612617
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 Aug 30, 2017 RCV000578178.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL7A1 - - GRCh38
GRCh37
1621 1642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 30, 2017)
criteria provided, single submitter
Method: clinical testing
Recessive dystrophic epidermolysis bullosa
(Autosomal recessive inheritance)
Allele origin: paternal
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
Accession: SCV000680021.1
Submitted: (Nov 09, 2017)
Evidence details
Comment:
The NM_000094.3(COL7A1):c.3265C>T heterozygous nonsense variant was identified in exon 24 of COL7A1. This nonsense variant introduces a stop codon at amino acid position 1089, NP_000085.1(COL7A1):p.(Gln1089*). … (more)

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 rs1553612617...

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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