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NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 10, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV000952076.3
Variation ID:
952076
Description:
5bp insertion
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NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)

Allele ID
923240
Variant type
Insertion
Variant length
5 bp
Cytogenetic location
3p21.31
Genomic location
3: 48579806-48579807 (GRCh38) GRCh38 UCSC
3: 48617239-48617240 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48617240_48617241insGTGAG
NC_000003.12:g.48579807_48579808insGTGAG
NM_000094.4:c.5132_5133insTCACC MANE Select NP_000085.1:p.Gly1712fs frameshift
... more HGVS
Protein change
G1712fs
Other names
-
Canonical SPDI
NC_000003.12:48579806:G:GGTGAG
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 3, 2020 RCV001224120.2
Pathogenic 1 criteria provided, single submitter Dec 4, 2018 RCV001352851.1
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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
(Dec 04, 2018)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547317.1
Submitted: (Mar 10, 2021)
Evidence details
Pathogenic
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001396300.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gly1712Hisfs*131) in the COL7A1 gene. It is expected to result in an absent or disrupted protein … (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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Title Author Journal Year Link
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants. Mariath LM Clinical genetics 2019 PMID: 31001817
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. Varki R Journal of medical genetics 2007 PMID: 16971478

Record last updated May 10, 2021