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NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Aug 4, 2015
Accession:
VCV001048039.1
Variation ID:
1048039
Description:
5bp insertion
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NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)

Allele ID
1035832
Variant type
Insertion
Variant length
5 bp
Cytogenetic location
3p21.31
Genomic location
3: 48579808-48579809 (GRCh38) GRCh38 UCSC
3: 48617241-48617242 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.48579810_48579811insGAGGT
NC_000003.11:g.48617243_48617244insGAGGT
NM_000094.4:c.5130_5131insCTCAC MANE Select NP_000085.1:p.Thr1711fs frameshift
... more HGVS
Protein change
T1711fs
Other names
-
Canonical SPDI
NC_000003.12:48579808:GT:GTGAGGT
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 Aug 4, 2015 RCV001352850.1
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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
(Aug 04, 2015)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547316.1
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