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NM_014231.5(VAMP1):c.252C>A (p.Ala84=) AND Myasthenic syndrome, congenital, 25, presynaptic

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 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:
RCV002245945.1

Allele description [Variation Report for NM_014231.5(VAMP1):c.252C>A (p.Ala84=)]

NM_014231.5(VAMP1):c.252C>A (p.Ala84=)

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.252C>A (p.Ala84=)
HGVS:
  • NC_000012.12:g.6465878G>T
  • NG_042188.2:g.10022C>A
  • NM_001297438.2:c.252C>A
  • NM_014231.5:c.252C>AMANE SELECT
  • NM_016830.4:c.252C>A
  • NM_199245.3:c.252C>A
  • NP_001284367.1:p.Ala84=
  • NP_055046.1:p.Ala84=
  • NP_058439.1:p.Ala84=
  • NP_954740.1:p.Ala84=
  • NC_000012.11:g.6575044G>T
  • NG_042188.1:g.10022C>A
  • NM_014231.3:c.252C>A
  • NR_123717.2:n.271C>A
Links:
dbSNP: rs2072375
NCBI 1000 Genomes Browser:
rs2072375
Molecular consequence:
  • NR_123717.2:n.271C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001297438.2:c.252C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014231.5:c.252C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016830.4:c.252C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_199245.3:c.252C>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002514417Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Genome-Nilou Lab, SCV002514417.1

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

Last Updated: Sep 29, 2024