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NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Dec 29, 2017
Accession:
VCV000722179.2
Variation ID:
722179
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=)

Allele ID
734129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48571137 (GRCh38) GRCh38 UCSC
3: 48608570 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286:g.29116G>A
LRG_286t1:c.7128G>A LRG_286p1:p.Pro2376=
NC_000003.11:g.48608570C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48571136:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
dbSNP: rs776459582
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 29, 2017 RCV000895782.1
Uncertain significance 1 no assertion criteria provided Jun 12, 2020 RCV001275978.1
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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
1621 1642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 29, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001039847.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jun 12, 2020)
no assertion criteria provided
Method: clinical testing
Autosomal dominant dystrophic epidermolysis bullosa
Allele origin: germline
Natera, Inc.
Accession: SCV001461677.1
Submitted: (Dec 28, 2020)
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 rs776459582...

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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