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NM_000094.3(COL7A1):c.8305-20G>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 28, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000255114.3
Variation ID:
255114
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.8305-20G>C

Allele ID
251192
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48566583 (GRCh38) GRCh38 UCSC
3: 48604016 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.33670G>C
LRG_286t1:c.8305-20G>C
NM_000094.3:c.8305-20G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48566582:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.02576 (G)

Allele frequency
1000 Genomes Project 0.02576
Trans-Omics for Precision Medicine (TOPMed) 0.04801
Exome Aggregation Consortium (ExAC) 0.05372
The Genome Aggregation Database (gnomAD), exomes 0.05385
The Genome Aggregation Database (gnomAD) 0.05351
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05674
Links
ClinGen: CA2378077
dbSNP: rs17256786
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, multiple submitters, no conflicts Dec 3, 2020 RCV001513412.2
Benign 1 criteria provided, single submitter - RCV000250667.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302266.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001721028.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001946004.1
Submitted: (Sep 28, 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 rs17256786...

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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 Sep 29, 2021