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NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 3, 2021)
Last evaluated:
Mar 30, 2021
Accession:
VCV000529142.5
Variation ID:
529142
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)

Allele ID
523396
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83387038 (GRCh38) GRCh38 UCSC
7: 83016354 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.267126A>G
LRG_1287t1:c.1680A>G LRG_1287p1:p.Arg560=
NC_000007.14:g.83387038T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:83387037:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00041
The Genome Aggregation Database (gnomAD) 0.00115
The Genome Aggregation Database (gnomAD), exomes 0.00093
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00028
The Genome Aggregation Database (gnomAD) 0.00056
Exome Aggregation Consortium (ExAC) 0.00101
Links
ClinGen: CA4321936
dbSNP: rs186628513
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 20, 2020 RCV000634443.4
Likely benign 1 criteria provided, single submitter Mar 30, 2021 RCV001766353.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SEMA3E - - GRCh38
GRCh37
319 338

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 20, 2020)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000755750.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 30, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002008787.1
Submitted: (Nov 03, 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 rs186628513...

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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 Nov 27, 2021