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NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 14, 2016)
Last evaluated:
Mar 18, 2016
Accession:
VCV000225324.1
Variation ID:
225324
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln)

Allele ID
227263
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48587443 (GRCh38) GRCh38 UCSC
3: 48624876 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48624876C>T
NC_000003.12:g.48587443C>T
NM_000094.3:c.2969G>A NP_000085.1:p.Arg990Gln missense
... more HGVS
Protein change
R990Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00023
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00014
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00014
Links
dbSNP: rs568498471
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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 Mar 18, 2016 RCV000490263.1
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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
312 321

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Generalized dominant dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267269.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly. Nakano H The British journal of dermatology 2007 PMID: 17501948

Record last updated Jun 07, 2019