NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Jul 22, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000713694.9

Allele description [Variation Report for NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)]

NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)

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.9148C>G (p.Leu3050Val)
HGVS:
  • NC_000006.12:g.152376557G>C
  • NG_012855.1:g.265843C>G
  • NG_012855.2:g.265843C>G
  • NM_033071.3:c.9169C>G
  • NM_182961.4:c.9148C>GMANE SELECT
  • NP_149062.1:p.Leu3057Val
  • NP_892006.3:p.Leu3050Val
  • LRG_427t1:c.9148C>G
  • LRG_427t2:c.9169C>G
  • LRG_427:g.265843C>G
  • LRG_427p1:p.Leu3050Val
  • LRG_427p2:p.Leu3057Val
  • NC_000006.11:g.152697692G>C
  • NM_182961.2:c.9148C>G
Protein change:
L3050V
Links:
dbSNP: rs117360770
NCBI 1000 Genomes Browser:
rs117360770
Molecular consequence:
  • NM_033071.3:c.9169C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.9148C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000523963GeneDxcriteria provided, single submitter
Likely benign
(Jul 22, 2020)
germlineclinical testing

Citation Link,

SCV000844321Athena Diagnostics Inccriteria provided, single submitter
Benign
(Oct 2, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001154946CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Mar 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16.

PubMed [citation]
PMID:
25976027
PMCID:
PMC4539354

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000523963.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 24082139, 25976027, 28798025)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000844321.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154946.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2021

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