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NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Oct 17, 2018
Accession:
VCV000631925.1
Variation ID:
631925
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=)

Allele ID
620132
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48580300 (GRCh38) GRCh38 UCSC
3: 48617733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48617733C>T
NC_000003.12:g.48580300C>T
NM_000094.3:c.5097G>A NP_000085.1:p.Pro1699= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48580299:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs369034739
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 17, 2018 RCV000778705.1
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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
1620 1641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
Dystrophic epidermolysis bullosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915058.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The COL7A1 c.5097G>A (p.Pro1699) is a synonymous variant that has been reported to lead to an in-frame deletion of the protein through aberrant splicing (Whittock … (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
Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. Fassihi H Journal of dermatological science 2006 PMID: 16500083
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. Whittock NV The Journal of investigative dermatology 1999 PMID: 10504458

Text-mined citations for rs369034739...

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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 Apr 08, 2021