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NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) AND Myasthenic syndrome, congenital, 25, presynaptic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 18, 2019
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:
RCV000757909.1

Allele description [Variation Report for NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)]

NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)

Genes:
TAPBPL:TAP binding protein like [Gene - OMIM - HGNC]
VAMP1:vesicle associated membrane protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)
HGVS:
  • NC_000012.12:g.6465984C>G
  • NG_042188.1:g.9916G>C
  • NG_042188.2:g.9916G>C
  • NM_001297438.2:c.146G>C
  • NM_014231.5:c.146G>CMANE SELECT
  • NM_016830.4:c.146G>C
  • NM_199245.3:c.146G>C
  • NP_001284367.1:p.Arg49Pro
  • NP_055046.1:p.Arg49Pro
  • NP_058439.1:p.Arg49Pro
  • NP_954740.1:p.Arg49Pro
  • NC_000012.11:g.6575150C>G
  • NM_014231.4:c.146G>C
  • NR_123717.2:n.165G>C
Protein change:
R49P; ARG49PRO
Links:
OMIM: 185880.0004; dbSNP: rs754046104
NCBI 1000 Genomes Browser:
rs754046104
Molecular consequence:
  • NM_001297438.2:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014231.5:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016830.4:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199245.3:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123717.2:n.165G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myasthenic syndrome, congenital, 25, presynaptic
Synonyms:
Myasthenic syndrome, congenital, 25
Identifiers:
MONDO: MONDO:0032675; MedGen: C5193027; OMIM: 618323

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886419OMIM
no assertion criteria provided
Pathogenic
(Feb 18, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS; SYNAPS Study Group., Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.

Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.

PubMed [citation]
PMID:
28253535
PMCID:
PMC5413866

Details of each submission

From OMIM, SCV000886419.1

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

Description

In 2 sibs, born of consanguineous Israeli parents (family 2), with presynaptic congenital myasthenic syndrome-25 (CMS25; 618323), Salpietro et al. (2017) identified a homozygous c.146G-C transversion (c.146G-C, NM_014232) in the VAMP1 gene, resulting in an arg49-to-pro (R49P) substitution at a conserved residue in the active domain of the protein. The mutation, which was found by whole-genome sequencing, segregated with the disorder in the family. The variant was found once in the heterozygous state in the ExAC database. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Apr 23, 2022