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NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly) AND Long QT syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 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:
RCV003319960.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)]

NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)

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.910T>G (p.Trp304Gly)
HGVS:
  • NC_000011.10:g.2572975T>G
  • NG_008935.1:g.132985T>G
  • NM_000218.3:c.910T>GMANE SELECT
  • NM_001406836.1:c.910T>G
  • NM_001406837.1:c.640T>G
  • NM_001406838.1:c.478-10460T>G
  • NM_181798.2:c.529T>G
  • NP_000209.2:p.Trp304Gly
  • NP_000209.2:p.Trp304Gly
  • NP_001393765.1:p.Trp304Gly
  • NP_001393766.1:p.Trp214Gly
  • NP_861463.1:p.Trp177Gly
  • NP_861463.1:p.Trp177Gly
  • LRG_287t1:c.910T>G
  • LRG_287t2:c.529T>G
  • LRG_287:g.132985T>G
  • LRG_287p1:p.Trp304Gly
  • LRG_287p2:p.Trp177Gly
  • NC_000011.9:g.2594205T>G
  • NM_000218.2:c.910T>G
  • NM_181798.1:c.529T>G
  • NR_040711.2:n.803T>G
Protein change:
W177G
Molecular consequence:
  • NM_001406838.1:c.478-10460T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000218.3:c.910T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.910T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.640T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.529T>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
SCV004024160Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 1, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes, SCV004024160.1

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

Last Updated: Aug 13, 2023