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NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 9, 2020
Accession:
VCV000285682.4
Variation ID:
285682
Description:
single nucleotide variant
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NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)

Allele ID
269919
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.2
Genomic location
6: 152284032 (GRCh38) GRCh38 UCSC
6: 152605167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_427:g.358368C>T
LRG_427t2:c.17940C>T LRG_427p2:p.Ala5980=
LRG_427t1:c.18153C>T LRG_427p1:p.Ala6051=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:152284031:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00050
The Genome Aggregation Database (gnomAD) 0.00000
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00047
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA4055041
dbSNP: rs201090220
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 14, 2018 RCV000713614.3
Likely benign 1 criteria provided, single submitter Jan 8, 2016 RCV000270524.1
Benign 1 criteria provided, single submitter Mar 9, 2020 RCV001510759.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SYNE1 - - GRCh38
GRCh37
3503 3642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338819.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844239.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001019320.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Mar 09, 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: SCV001717875.1
Submitted: (Jan 07, 2021)
Evidence details

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

Text-mined citations for rs201090220...

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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