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NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
May 29, 2018
Accession:
VCV000566566.1
Variation ID:
566566
Description:
single nucleotide variant
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NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)

Allele ID
565477
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.2
Genomic location
6: 152369538 (GRCh38) GRCh38 UCSC
6: 152690673 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.152690673A>G
NC_000006.12:g.152369538A>G
NM_033071.3:c.9605T>C NP_149062.1:p.Met3202Thr missense
... more HGVS
Protein change
M3202T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1398398021
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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 May 29, 2018 RCV000686411.1
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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
(May 29, 2018)
criteria provided, single submitter
Method: clinical testing
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
Allele origin: germline
Invitae
Accession: SCV000813929.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces methionine with threonine at codon 3202 of the SYNE1 protein (p.Met3202Thr). The methionine residue is moderately conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Oct 27, 2019