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NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Jul 8, 2011
Accession:
VCV001048006.1
Variation ID:
1048006
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter)

Allele ID
1035843
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48586672 (GRCh38) GRCh38 UCSC
3: 48624105 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48624105G>C
NC_000003.12:g.48586672G>C
NM_000094.4:c.3294C>G MANE Select NP_000085.1:p.Tyr1098Ter nonsense
... more HGVS
Protein change
Y1098*
Other names
-
Canonical SPDI
NC_000003.12:48586671:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 8, 2011 RCV001352806.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Jul 08, 2011)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547301.1
Submitted: (Mar 10, 2021)
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
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Escámez MJ The British journal of dermatology 2010 PMID: 20184583

Record last updated Apr 08, 2021