Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV001038660.1
Variation ID:
1038660
Description:
single nucleotide variant
Help

NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)

Allele ID
1025341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48574488 (GRCh38) GRCh38 UCSC
3: 48611921 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48611921C>T
NC_000003.12:g.48574488C>T
NM_000094.4:c.6456G>A MANE Select NP_000085.1:p.Pro2152= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48574487:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 21, 2020 RCV001341997.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001535897.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 2152 of the COL7A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Mar 28, 2021