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NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000746193.4
Variation ID:
746193
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=)

Allele ID
748332
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48567143 (GRCh38) GRCh38 UCSC
3: 48604576 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.33110C>T
NC_000003.11:g.48604576G>A
NC_000003.12:g.48567143G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48567142:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00025
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00039
Links
dbSNP: rs199936185
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV000922786.3
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001150255.1
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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
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dystrophic epidermolysis bullosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001311271.1
Submitted: (Feb 20, 2020)
Evidence details
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
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001068229.3
Submitted: (Jan 07, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs199936185...

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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 Jun 14, 2021