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NM_000094.4(COL7A1):c.5532+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 9, 2020
Accession:
VCV000488825.3
Variation ID:
488825
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.5532+1G>A

Allele ID
481696
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48578320 (GRCh38) GRCh38 UCSC
3: 48615753 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48615753C>T
NC_000003.12:g.48578320C>T
NM_000094.4:c.5532+1G>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
IVS64+1G>A
IVS64DS, G-A, +1
Canonical SPDI
NC_000003.12:48578319:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA2379463
OMIM: 120120.0018
dbSNP: rs767182886
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 9, 2020 RCV000579227.2
Pathogenic 1 criteria provided, single submitter Mar 7, 2018 RCV000626021.1
Pathogenic 1 no assertion criteria provided Jun 1, 1999 RCV000018990.23
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001272354.1
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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
1602 1623

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 29, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000680735.1
Submitted: (Feb 07, 2018)
Evidence details
Comment:
The c.5532+1 G>A splice site variant has been previously reported as an apparently de novo variant in association with autosomal recessive DEB (Mellerio et al., … (more)
Pathogenic
(Mar 07, 2018)
criteria provided, single submitter
Method: clinical testing
Recessive dystrophic epidermolysis bullosa
(Autosomal recessive inheritance)
Allele origin: unknown
Undiagnosed Diseases Network,NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV000746631.1
Submitted: (Mar 27, 2018)
Evidence details
Likely pathogenic
(Aug 09, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001575674.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 64 of the COL7A1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Jun 01, 1999)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000039277.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Autosomal recessive epidermolysis bullosa dystrophica inversa
Allele origin: germline
Natera, Inc.
Accession: SCV001454266.1
Submitted: (Dec 28, 2020)
Evidence details

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
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. Rodríguez FA Journal of dermatological science 2012 PMID: 22209565
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. Varki R Journal of medical genetics 2007 PMID: 16971478
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. Mellerio JE The Journal of investigative dermatology 1999 PMID: 10383749

Text-mined citations for rs767182886...

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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 Jul 07, 2021