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NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 2, 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:
RCV000182083.4

Allele description [Variation Report for NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp)]

NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp)

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.550T>G (p.Tyr184Asp)
Other names:
p.Y184D:TAC>GAC
HGVS:
  • NC_000011.10:g.2570700T>G
  • NG_008935.1:g.130710T>G
  • NM_000218.3:c.550T>GMANE SELECT
  • NM_001406836.1:c.550T>G
  • NM_001406837.1:c.280T>G
  • NM_181798.2:c.169T>G
  • NP_000209.2:p.Tyr184Asp
  • NP_000209.2:p.Tyr184Asp
  • NP_001393765.1:p.Tyr184Asp
  • NP_001393766.1:p.Tyr94Asp
  • NP_861463.1:p.Tyr57Asp
  • NP_861463.1:p.Tyr57Asp
  • LRG_287t1:c.550T>G
  • LRG_287t2:c.169T>G
  • LRG_287:g.130710T>G
  • LRG_287p1:p.Tyr184Asp
  • LRG_287p2:p.Tyr57Asp
  • NC_000011.9:g.2591930T>G
  • NM_000218.2:c.550T>G
  • NM_181798.1:c.169T>G
  • NR_040711.2:n.443T>G
Protein change:
Y184D
Links:
dbSNP: rs199473661
NCBI 1000 Genomes Browser:
rs199473661
Molecular consequence:
  • NM_000218.3:c.550T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.550T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.280T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.169T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234386GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 2, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234386.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

While the Tyr184Asp mutation in the KCNQ1 gene has not been reported to our knowledge, mutations affecting the same residue, (Tyr184Ser, Tyr184His), have been reported in association with LQTS (Kapplinger J et al., 2009, Jongbloed R et al, 1999). Additionally, mutations in nearby residues (Lys183Met, Lys183Arg, Gly186Ser, Gly186Arg, Leu187Pro) have been reported in association with LQTS, further supporting the functional importance of this codon and this region of the protein. Tyr184Asp results in a non-conservative amino acid substitution of neutral, polar Tyrosine with a negatively charged Aspartic acid. In silico analysis predicts Tyr184Asp is damaging to the protein structure/function. Furthermore, Tyr184Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, Tyr184Asp in the KCNQ1 gene is interpreted as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023