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NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 18, 2017
Accession:
VCV000529114.1
Variation ID:
529114
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly)

Allele ID
523292
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83036513 (GRCh37) GRCh37 UCSC
7: 83407197 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.246967A>G
LRG_1287t1:c.713A>G LRG_1287p1:p.Asp238Gly
NC_000007.13:g.83036513T>C
... more HGVS
Protein change
D238G, D178G
Other names
-
Canonical SPDI
NC_000007.14:83407196:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA367930370
dbSNP: rs1554320716
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 Dec 18, 2017 RCV000634414.1
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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
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000755719.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces aspartic acid with glycine at codon 238 of the SEMA3E protein (p.Asp238Gly). The aspartic acid residue is highly conserved and there … (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 rs1554320716...

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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 08, 2021