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NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 3, 2021)
Last evaluated:
Sep 22, 2021
Accession:
VCV000845637.3
Variation ID:
845637
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)

Allele ID
833872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83648538 (GRCh38) GRCh38 UCSC
7: 83277854 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.5626C>G
LRG_1287t1:c.5C>G LRG_1287p1:p.Ala2Gly
NC_000007.13:g.83277854G>C
... more HGVS
Protein change
A2G
Other names
-
Canonical SPDI
NC_000007.14:83648537:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 7, 2019 RCV001048742.2
Uncertain significance 1 criteria provided, single submitter Sep 22, 2021 RCV001759976.1
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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
318 337

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 07, 2019)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV001212761.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with glycine at codon 2 of the SEMA3E protein (p.Ala2Gly). The alanine residue is moderately conserved and there is a … (more)
Uncertain significance
(Sep 22, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002008415.1
Submitted: (Nov 03, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.

Record last updated Nov 06, 2021