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NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 6, 2019
Accession:
VCV000810119.9
Variation ID:
810119
Description:
single nucleotide variant
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NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)

Allele ID
796082
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 83367923 (GRCh38) GRCh38 UCSC
7: 82997239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.82997239G>A
NC_000007.14:g.83367923G>A
NG_021242.2:g.286241C>T
... more HGVS
Protein change
T604M, T664M
Other names
-
Canonical SPDI
NC_000007.14:83367922:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs375536813
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter May 1, 2018 RCV000998823.3
Uncertain significance 1 criteria provided, single submitter Dec 6, 2019 RCV001053945.1
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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 06, 2019)
criteria provided, single submitter
Method: clinical testing
CHARGE association
Allele origin: germline
Invitae
Accession: SCV001218232.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces threonine with methionine at codon 664 of the SEMA3E protein (p.Thr664Met). The threonine residue is highly conserved and there is a … (more)
Uncertain significance
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155110.7
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551413.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The SEMA3E p.Thr604Met variant was not identified in the literature nor was it identified in the ClinVar, Cosmic or MutDB databases. The variant was identified … (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 rs375536813...

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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