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NM_000094.3(COL7A1):c.4923C>T (p.Asp1641=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000755137.4
Variation ID:
755137
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.4923C>T (p.Asp1641=)

Allele ID
763969
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48581134 (GRCh38) GRCh38 UCSC
3: 48618567 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48618567G>A
NC_000003.12:g.48581134G>A
NM_000094.3:c.4923C>T NP_000085.1:p.Asp1641= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48581133:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00020
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00014
Trans-Omics for Precision Medicine (TOPMed) 0.00017
The Genome Aggregation Database (gnomAD) 0.00013
Links
dbSNP: rs202165842
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 4, 2020 RCV000932515.3
Uncertain significance 1 no assertion criteria provided Feb 13, 2020 RCV001272606.1
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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
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001078198.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Feb 13, 2020)
no assertion criteria provided
Method: clinical testing
Dystrophic epidermolysis bullosa
Allele origin: germline
Natera, Inc.
Accession: SCV001454714.1
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 rs202165842...

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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 06, 2021