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NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 3, 2021)
Last evaluated:
May 9, 2019
Accession:
VCV000643841.2
Variation ID:
643841
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)

Allele ID
636366
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83407192 (GRCh38) GRCh38 UCSC
7: 83036508 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1287:g.246972G>T
LRG_1287t1:c.718G>T LRG_1287p1:p.Asp240Tyr
NC_000007.13:g.83036508C>A
... more HGVS
Protein change
D240Y, D180Y
Other names
-
Canonical SPDI
NC_000007.14:83407191:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00000
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs777910966
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 31, 2018 RCV000797635.1
Uncertain significance 1 criteria provided, single submitter May 9, 2019 RCV001759513.1
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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
Uncertain significance
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV000937203.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces aspartic acid with tyrosine at codon 240 of the SEMA3E protein (p.Asp240Tyr). The aspartic acid residue is highly conserved and there … (more)
Uncertain significance
(May 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002005506.1
Submitted: (Nov 03, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our … (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 rs777910966...

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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