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NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 11, 2017
Accession:
VCV000459535.1
Variation ID:
459535
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)

Allele ID
457620
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83392716 (GRCh38) GRCh38 UCSC
7: 83022032 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.261448G>T
LRG_1287t1:c.1506G>T LRG_1287p1:p.Gln502His
NC_000007.13:g.83022032C>A
... more HGVS
Protein change
Q502H, Q442H
Other names
-
Canonical SPDI
NC_000007.14:83392715:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA367923709
dbSNP: rs1170846873
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 11, 2017 RCV000557704.1
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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
308 327

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 11, 2017)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000631231.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces glutamine with histidine at codon 502 of the SEMA3E protein (p.Gln502His). The glutamine residue is highly conserved and there is a … (more)

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 rs1170846873...

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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