NM_182961.4(SYNE1):c.16390-2A>G AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001265815.2

Allele description [Variation Report for NM_182961.4(SYNE1):c.16390-2A>G]

NM_182961.4(SYNE1):c.16390-2A>G

Gene:

SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

Preferred name:

NM_182961.4(SYNE1):c.16390-2A>G

HGVS:

NC_000006.12:g.152318265T>C
NG_012855.2:g.324135A>G
NM_033071.5:c.16177-2A>G
NM_182961.4:c.16390-2A>GMANE SELECT
LRG_427t1:c.16390-2A>G
LRG_427t2:c.16177-2A>G
LRG_427:g.324135A>G
NC_000006.11:g.152639400T>C
NM_033071.3:c.16177-2A>G
NM_182961.2:c.16390-2A>G
NM_182961.3:c.16390-2A>G

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS84AS, A-G, -2

Links:

OMIM: 608441.0001; dbSNP: rs759460806

NCBI 1000 Genomes Browser:

rs759460806

Molecular consequence:

NM_033071.5:c.16177-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_182961.4:c.16390-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443987	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Mar 9, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443987

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Mar 9, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/French Canadian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA.

Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10.

PubMed [citation]

PMID:: 17159980

Details of each submission

From Ambry Genetics, SCV001443987.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/French Canadian	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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