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NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys) AND Congenital myasthenic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001279264.1

Allele description [Variation Report for NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)]

NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)

Gene:
RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)
HGVS:
  • NC_000011.10:g.47448835G>A
  • NG_008312.1:g.5344C>T
  • NM_005055.5:c.130C>TMANE SELECT
  • NM_032645.5:c.130C>T
  • NP_005046.2:p.Arg44Cys
  • NP_116034.2:p.Arg44Cys
  • NC_000011.9:g.47470387G>A
Protein change:
R44C
Links:
dbSNP: rs772236739
NCBI 1000 Genomes Browser:
rs772236739
Molecular consequence:
  • NM_005055.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032645.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myasthenic syndrome (CMS)
Identifiers:
MONDO: MONDO:0018940; MeSH: D020294; MedGen: C0751882; OMIM: PS601462

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001466347Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 14, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466347.1

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

Last Updated: Apr 23, 2022