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NM_000218.3(KCNQ1):c.*305A>C AND Congenital long QT syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000405723.7

Allele description [Variation Report for NM_000218.3(KCNQ1):c.*305A>C]

NM_000218.3(KCNQ1):c.*305A>C

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.*305A>C
HGVS:
  • NC_000011.10:g.2848308A>C
  • NG_008935.1:g.408318A>C
  • NM_000218.3:c.*305A>CMANE SELECT
  • NM_001406836.1:c.*305A>C
  • NM_001406837.1:c.*305A>C
  • NM_001406838.1:c.*305A>C
  • NM_001406839.1:c.*305A>C
  • NM_181798.2:c.*305A>C
  • LRG_287t1:c.*305A>C
  • LRG_287t2:c.*305A>C
  • LRG_287:g.408318A>C
  • NC_000011.9:g.2869538A>C
  • NM_000218.2:c.*305A>C
  • NM_181798.1:c.*305A>C
  • NR_040711.2:n.2229A>C
Links:
dbSNP: rs45570140
NCBI 1000 Genomes Browser:
rs45570140
Molecular consequence:
  • NM_000218.3:c.*305A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000370461Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000370461.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023