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NC_000001.11:g.976618_977825del AND Congenital myasthenic syndrome 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 22, 2024
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:
RCV003992098.1

Allele description [Variation Report for NC_000001.11:g.976618_977825del]

NC_000001.11:g.976618_977825del

Genes:
AGRN:agrin [Gene - OMIM - HGNC]
PERM1:PPARGC1 and ESRR induced regulator, muscle 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NC_000001.11:g.976618_977825del
HGVS:
  • NC_000001.11:g.976618_977825del
  • NM_001291366.2:c.2149+1062_2162del
  • NM_001291367.2:c.1807+1062_1820del
  • NM_001369897.1:c.2149+1062_2162del
  • NM_001369898.1:c.2149+1062_2150-54del
  • NM_001394713.1:c.2149+1062_2162delMANE SELECT
  • NC_000001.10:g.911998_913205del
Molecular consequence:
  • NM_001369898.1:c.2149+1062_2150-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291366.2:c.2149+1062_2162del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001291367.2:c.1807+1062_1820del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369897.1:c.2149+1062_2162del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001394713.1:c.2149+1062_2162del - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Congenital myasthenic syndrome 8
Synonyms:
MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
Identifiers:
MONDO: MONDO:0014052; MedGen: C3808739; Orphanet: 590; OMIM: 615120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812020Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Pathogenic
(Feb 22, 2024) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianunknownyes21not providednot providedyesclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004812020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian2not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedBloodnot provided2not provided1not provided

Last Updated: Oct 8, 2024