NM_005055.4(RAPSN):c.264C>A (p.Asn88Lys)

Variation ID: Help
8046
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 14, 2015
Number of submission(s):
3
Condition(s):
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency [MedGen - OMIM]
  • MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005055.4(RAPSN):c.264C>A (p.Asn88Lys)

Allele ID:
23085
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
  • Chr11: 47448079 (on Assembly GRCh38)
  • Chr11: 47469631 (on Assembly GRCh37)
Protein change:
N88K
HGVS:
  • NG_008312.1:g.6100C>A
  • NM_005055.4:c.264C>A
  • NC_000011.10:g.47448079G>T (GRCh38)
  • NP_005046.2:p.Asn88Lys
  • NC_000011.9:g.47469631G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs104894299
Molecular consequence:
NM_005055.4:c.264C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00100 (T)
  • GMAF 0.00120 (T)

1 Affected gene

Variant frequency in dbGaP Help

NM_005055.4(RAPSN):c.264C>A (p.Asn88Lys)

GRCh37 Chr11:47469631
Called variantsPotential variants
Sample count37 of 8415176 of 47286

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Jan 17, 2014)
criteria provided, single submitter
(LMM Criteria)
clinical testing
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (Autosomal recessive inheritance)[MedGen | OMIM]
germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized Medicine - CSER-MedSeq

(Mar 6, 2015)

SCV000221210.2
Pathogenic
(Jan 14, 2015)
criteria provided, single submitter
(EGL Classification Definitions)
clinical testing
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency[MedGen | OMIM]
germline
    Emory Genetics Laboratory

    (Jun 9, 2015)

    SCV000227353.1
    Pathogenic
    (Dec 26, 2006)
    no assertion criteria providedliterature only
    • MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY[MedGen | OMIM]
    germlineOMIM

    (Dec 30, 2010)

    SCV000028720.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters15germlinenot providednot provided
    Emory Genetics Laboratorynot provided4germlinenot providednot providednot provided
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe Asn88Lys variant in RAPSN …Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
    Emory Genetics Laboratorygermline4Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (unknown)not providednot providednot provided
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinegermline1Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (not provided)not providednot providednot provided
    OMIMgermlinenot providedMYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (not provided)not providednot providedAmong 120 CMS patients from 110 unrelated families, Muller et al. (2003) identified the N88K mutation in 12 patients (10%) from 10 families. Seven pat…Full description

    Last Updated: Jan 20, 2016