NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) AND multiple conditions

Clinical significance:Benign (Last evaluated: Nov 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001080179.2

Allele description [Variation Report for NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)]

NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)

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.15313G>A (p.Asp5105Asn)
HGVS:
  • NC_000006.12:g.152326083C>T
  • NG_012855.2:g.316317G>A
  • NM_033071.3:c.15100G>A
  • NM_033071.5:c.15100G>A
  • NM_182961.4:c.15313G>AMANE SELECT
  • NP_149062.1:p.Asp5034Asn
  • NP_149062.2:p.Asp5034Asn
  • NP_892006.3:p.Asp5105Asn
  • LRG_427t1:c.15313G>A
  • LRG_427t2:c.15100G>A
  • LRG_427:g.316317G>A
  • LRG_427p1:p.Asp5105Asn
  • LRG_427p2:p.Asp5034Asn
  • NC_000006.11:g.152647218C>T
  • NM_182961.2:c.15313G>A
Protein change:
D5034N
Links:
dbSNP: rs35493783
NCBI 1000 Genomes Browser:
rs35493783
Molecular consequence:
  • NM_033071.3:c.15100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033071.5:c.15100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.15313G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia, autosomal recessive 8 (SCAR8)
Synonyms:
ATAXIA, RECESSIVE, OF BEAUCE; SYNE1-Related Autosomal Recessive Cerebellar Ataxia
Identifiers:
MONDO: MONDO:0012549; MedGen: C1853116; Orphanet: 88644; OMIM: 610743
Name:
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Synonyms:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
Identifiers:
MONDO: MONDO:0013071; MedGen: C2751807; Orphanet: 261; OMIM: 612998

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000649047Invitaecriteria provided, single submitter
Benign
(Nov 10, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000649047.5

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

Last Updated: Nov 27, 2021

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