NM_014231.5(VAMP1):c.341-2A>G AND Myasthenic syndrome, congenital, 25, presynaptic

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2023
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:: RCV003327350.2

Allele description [Variation Report for NM_014231.5(VAMP1):c.341-2A>G]

NM_014231.5(VAMP1):c.341-2A>G

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.341-2A>G

HGVS:

NC_000012.12:g.6464488T>C
NG_042188.2:g.11412A>G
NM_001297438.2:c.340+402A>G
NM_014231.5:c.341-2A>GMANE SELECT
NM_016830.4:c.340+402A>G
NM_199245.3:c.*388A>G
NC_000012.11:g.6573654T>C
NM_014231.4:c.341-2A>G

Molecular consequence:

NM_199245.3:c.*388A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001297438.2:c.340+402A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_016830.4:c.340+402A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_014231.5:c.341-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004034149	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Uncertain significance (Sep 8, 2023)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004034149

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Uncertain significance
(Sep 8, 2023)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004034149.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine