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NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2019)
Last evaluated:
Jan 28, 2019
Accession:
VCV000538380.2
Variation ID:
538380
Description:
single nucleotide variant
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NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)

Allele ID
522074
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.2
Genomic location
6: 152135157 (GRCh38) GRCh38 UCSC
6: 152456292 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.152135157T>C
NC_000006.11:g.152456292T>C
NM_001347701.1:c.2341A>G NP_001334630.1:p.Ile781Val missense
... more HGVS
Protein change
I8579V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA4052754
dbSNP: rs200178554
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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 27, 2017 RCV000647617.1
Uncertain significance 1 criteria provided, single submitter Jan 28, 2019 RCV000993175.1
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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
2392 2496

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 27, 2017)
criteria provided, single submitter
Method: clinical testing
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
Allele origin: germline
Invitae
Accession: SCV000769415.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 8531 of the SYNE1 protein (p.Ile8531Val). The isoleucine residue is highly conserved and there is a ... (more)
Uncertain significance
(Jan 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145958.1
Submitted: (Sep 25, 2019)
Evidence details

Citations for this variant

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 Jan 19, 2020