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NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 21, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000725935.8
Variation ID:
725935
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)

Allele ID
734130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48573234 (GRCh38) GRCh38 UCSC
3: 48610667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48610667G>C
NM_000094.3:c.6654C>G NP_000085.1:p.Gly2218= synonymous
NC_000003.11:g.48610667G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48573233:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00311
Trans-Omics for Precision Medicine (TOPMed) 0.00099
The Genome Aggregation Database (gnomAD) 0.00701
Exome Aggregation Consortium (ExAC) 0.00315
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Links
dbSNP: rs151111203
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Dec 8, 2020 RCV000900077.4
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001150325.1
Benign 1 no assertion criteria provided - RCV001529144.2
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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
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dystrophic epidermolysis bullosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001311385.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001044380.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742125.3
Submitted: (Sep 02, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001972277.1
Submitted: (Sep 21, 2021)
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
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. Varki R Journal of medical genetics 2007 PMID: 16971478

Text-mined citations for rs151111203...

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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 Oct 24, 2021