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NM_004366.6(CLCN2):c.898+1G>A AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 4, 2024
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:
RCV002501901.2

Allele description [Variation Report for NM_004366.6(CLCN2):c.898+1G>A]

NM_004366.6(CLCN2):c.898+1G>A

Gene:
CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_004366.6(CLCN2):c.898+1G>A
HGVS:
  • NC_000003.12:g.184357361C>T
  • NG_016422.1:g.9243G>A
  • NM_001171087.3:c.898+1G>A
  • NM_001171088.3:c.766+1G>A
  • NM_001171089.3:c.898+1G>A
  • NM_004366.6:c.898+1G>AMANE SELECT
  • NC_000003.11:g.184075149C>T
Links:
dbSNP: rs141074059
NCBI 1000 Genomes Browser:
rs141074059
Molecular consequence:
  • NM_001171087.3:c.898+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171088.3:c.766+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171089.3:c.898+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004366.6:c.898+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Epilepsy, idiopathic generalized, susceptibility to, 11 (EIG11)
Identifiers:
MONDO: MONDO:0011875; MedGen: C2750893; Orphanet: 307; OMIM: 607628
Name:
Familial hyperaldosteronism type II
Synonyms:
FH II
Identifiers:
MONDO: MONDO:0011576; MedGen: C1854107; Orphanet: 404; OMIM: 605635
Name:
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (LKPAT)
Synonyms:
Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema; Brain white matter edema
Identifiers:
MONDO: MONDO:0014292; MedGen: C4554120; Orphanet: 363540; OMIM: 615651

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002810505Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 4, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002810505.2

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

Last Updated: Feb 25, 2025