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NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2022
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:
RCV002453655.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)]

NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)

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.1142G>A (p.Cys381Tyr)
Other names:
p.C381Y:TGC>TAC
HGVS:
  • NC_000011.10:g.2587583G>A
  • NG_008935.1:g.147593G>A
  • NM_000218.3:c.1142G>AMANE SELECT
  • NM_001406836.1:c.1046G>A
  • NM_001406837.1:c.872G>A
  • NM_001406838.1:c.602G>A
  • NM_181798.2:c.761G>A
  • NP_000209.2:p.Cys381Tyr
  • NP_000209.2:p.Cys381Tyr
  • NP_001393765.1:p.Cys349Tyr
  • NP_001393766.1:p.Cys291Tyr
  • NP_001393767.1:p.Cys201Tyr
  • NP_861463.1:p.Cys254Tyr
  • NP_861463.1:p.Cys254Tyr
  • LRG_287t1:c.1142G>A
  • LRG_287t2:c.761G>A
  • LRG_287:g.147593G>A
  • LRG_287p1:p.Cys381Tyr
  • LRG_287p2:p.Cys254Tyr
  • NC_000011.9:g.2608813G>A
  • NM_000218.2:c.1142G>A
  • NM_181798.1:c.761G>A
  • NR_040711.2:n.1035G>A
Protein change:
C201Y
Links:
dbSNP: rs368507376
NCBI 1000 Genomes Browser:
rs368507376
Molecular consequence:
  • NM_000218.3:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.872G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406838.1:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.761G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002613049Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 10, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic variants in KCNE1, KCNQ1, and NOS1AP in sudden unexplained death during daily activities in Chinese Han population.

Huang J, Wang X, Hao B, Chen Y, Liu H, Quan L, Tang D, Sheng L, Li M, Huang E, Liu C, Luo B.

J Forensic Sci. 2015 Mar;60(2):351-6. doi: 10.1111/1556-4029.12687. Epub 2015 Jan 8. Erratum in: J Forensic Sci. 2018 Jan;63(1):349. doi: 10.1111/1556-4029.13725.

PubMed [citation]
PMID:
25639344

Details of each submission

From Ambry Genetics, SCV002613049.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.C381Y variant (also known as c.1142G>A), located in coding exon 9 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 1142. The cysteine at codon 381 is replaced by tyrosine, an amino acid with highly dissimilar properties. This alteration has been reported in a sudden unexplained death cohort; however, clinical details were limited (Huang J et al. J Forensic Sci, 2015 Mar;60:351-6). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024