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NM_005055.5(RAPSN):c.691-2_732dup AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2019
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:
RCV001219339.8

Allele description [Variation Report for NM_005055.5(RAPSN):c.691-2_732dup]

NM_005055.5(RAPSN):c.691-2_732dup

Gene:
RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_005055.5(RAPSN):c.691-2_732dup
HGVS:
  • NC_000011.10:g.47441880_47441923dup
  • NG_008312.1:g.12256_12299dup
  • NM_005055.5:c.691-2_732dupMANE SELECT
  • NM_032645.5:c.691-2_732dup
  • NC_000011.9:g.47463431_47463432insCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCT
  • NC_000011.9:g.47463432_47463475dup
  • NM_005055.4:c.691-2_732dup
Links:
dbSNP: rs2076367688
NCBI 1000 Genomes Browser:
rs2076367688
Molecular consequence:
  • NM_005055.5:c.691-2_732dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_032645.5:c.691-2_732dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:
Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
Name:
Congenital myasthenic syndrome 11
Synonyms:
MYASTHENIC SYNDROME, CONGENITAL, Ie; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Identifiers:
MONDO: MONDO:0014588; MedGen: C4225367; Orphanet: 590; OMIM: 616326

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001391274Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 15, 2019) 		germlineclinical testing

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

Help

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. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001391274.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change falls in intron 3 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RAPSN-related conditions.

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

Last Updated: Mar 5, 2025