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_012431.3(SEMA3E):c.796G>A (p.Val266Ile)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 13, 2019
Accession:
VCV000849961.2
Variation ID:
849961
Description:
single nucleotide variant
Help

NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)

Allele ID
833865
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83407114 (GRCh38) GRCh38 UCSC
7: 83036430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.247050G>A
LRG_1287t1:c.796G>A LRG_1287p1:p.Val266Ile
NC_000007.13:g.83036430C>T
... more HGVS
Protein change
V266I, V206I
Other names
-
Canonical SPDI
NC_000007.14:83407113: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 Feb 13, 2019 RCV001054028.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SEMA3E - - GRCh38
GRCh37
308 327

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 13, 2019)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV001218321.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 266 of the SEMA3E protein (p.Val266Ile). The valine residue is highly conserved and there is a … (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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021