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NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) AND Congenital myasthenic syndrome 17

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 14, 2021
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:
RCV000170321.6

Allele description [Variation Report for NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)]

NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)

Gene:
LRP4:LDL receptor related protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
HGVS:
  • NC_000011.10:g.46875551C>T
  • NG_021394.1:g.48072G>A
  • NM_002334.4:c.3830G>AMANE SELECT
  • NP_002325.2:p.Arg1277His
  • NC_000011.9:g.46897102C>T
  • NM_002334.3:c.3830G>A
  • O75096:p.Arg1277His
Protein change:
R1277H; ARG1277HIS
Links:
UniProtKB: O75096#VAR_073696; OMIM: 604270.0012; dbSNP: rs746136135
NCBI 1000 Genomes Browser:
rs746136135
Molecular consequence:
  • NM_002334.4:c.3830G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myasthenic syndrome 17
Identifiers:
MONDO: MONDO:0014578; MedGen: C4225377; Orphanet: 590; OMIM: 616304

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000222708OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2014)
germlineliterature only

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

SCV002059484Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 14, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K.

Hum Mol Genet. 2014 Apr 1;23(7):1856-68. doi: 10.1093/hmg/ddt578. Epub 2013 Nov 13.

PubMed [citation]
PMID:
24234652
PMCID:
PMC3943522

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000222708.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.3830G-A transition (chr11.46,897,102G-A, GRCh37) in the LRP4 gene, resulting in an arg1277-to-his (R1277H) substitution, that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-17 (CMS17; 616304) by Ohkawara et al. (2014), see 604270.0011.

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

From Centogene AG - the Rare Disease Company, SCV002059484.1

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

Last Updated: Feb 7, 2023