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NM_000094.4(COL7A1):c.4899+31G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Pathogenic(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Aug 19, 2021)
Last evaluated:
Jul 12, 2019
Accession:
VCV001048038.4
Variation ID:
1048038
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.4899+31G>A

Allele ID
1035833
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48581229 (GRCh38) GRCh38 UCSC
3: 48618662 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48618662C>T
NC_000003.12:g.48581229C>T
NG_007065.1:g.19024G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48581228:C:T
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 Mar 15, 2019 RCV001352847.1
Likely benign 1 criteria provided, single submitter Jul 12, 2019 RCV001568828.3
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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
(Mar 15, 2019)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547313.1
Submitted: (Mar 10, 2021)
Evidence details
Likely benign
(Jul 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001792767.1
Submitted: (Aug 19, 2021)
Evidence details
Comment:
In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect … (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.

Record last updated Sep 29, 2021