Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 21, 2020
Accession:
VCV000283708.6
Variation ID:
283708
Description:
single nucleotide variant
Help

NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)

Allele ID
267945
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.2
Genomic location
6: 152236211 (GRCh38) GRCh38 UCSC
6: 152557346 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.152557346A>G
LRG_427:g.406189T>C
LRG_427t2:c.20079T>C LRG_427p2:p.Asp6693=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:152236210:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00049
Trans-Omics for Precision Medicine (TOPMed) 0.00154
The Genome Aggregation Database (gnomAD) 0.00171
The Genome Aggregation Database (gnomAD), exomes 0.00035
The Genome Aggregation Database (gnomAD) 0.00150
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00192
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00172
Links
ClinGen: CA4054454
dbSNP: rs73619386
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 31, 2019 RCV000713624.5
Likely benign 1 criteria provided, single submitter Oct 2, 2015 RCV000300402.4
Benign 1 criteria provided, single submitter Jul 21, 2020 RCV001078502.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SYNE1 - - GRCh38
GRCh37
3503 3642

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000335986.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 31, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000527294.4
Submitted: (Sep 25, 2021)
Evidence details
Benign
(Sep 18, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844250.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jul 21, 2020)
criteria provided, single submitter
Method: clinical testing
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
Allele origin: germline
Invitae
Accession: SCV000649100.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SYNE1 - - - -

Text-mined citations for rs73619386...

Help
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 Dec 04, 2021