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NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) AND Long QT syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 27, 2017
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:
RCV000590986.9

Allele description [Variation Report for NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)]

NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)
HGVS:
  • NC_000011.10:g.2445103C>G
  • NG_008935.1:g.5113C>G
  • NM_000218.3:c.5C>GMANE SELECT
  • NP_000209.2:p.Ala2Gly
  • LRG_287t1:c.5C>G
  • LRG_287:g.5113C>G
  • LRG_287p1:p.Ala2Gly
  • NC_000011.10:g.420C>G
  • NC_000011.9:g.2466333C>G
  • NM_000218.2:c.5C>G
Links:
dbSNP: rs199473442
NCBI 1000 Genomes Browser:
rs199473442
Molecular consequence:
  • NM_000218.3:c.5C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000584186Biotechnology Research Center, Pasteur Institute of Iran
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 27, 2017) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Iraniangermlineno61not providednot providednot providedresearch
Iraniangermlineyes61not providednot providednot providedresearch

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 Biotechnology Research Center, Pasteur Institute of Iran, SCV000584186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Iranian6not providednot providedresearch PubMed (1)
2Iranian6not providednot providedresearch PubMed (1)

Description

According to the ACMG standards and guidelines, the following evidences results in the likely pathogenic variant: Not reported in ExAC and 1000G project and in more than 1000 unrelated Iranian individuals (PM2) but known disease mutation at this position (HGMD ID: CM097076, ClinVar ID: 67091) (PM5) Co segregated with the disease in the family (PP1) Missense variants in KCNQ1 gene are a common mechanism of the LQT1 disease (PP2)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not provided1not provided
2germlinenonot providednot providednot provided6not provided1not provided

Last Updated: Oct 26, 2024