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NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2019
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:
RCV002446944.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)]

NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)
HGVS:
  • NC_000011.10:g.2572915_2572917del
  • NG_008935.1:g.132925_132927del
  • NM_000218.3:c.850_852delMANE SELECT
  • NM_001406836.1:c.850_852delGAG
  • NM_001406837.1:c.580_582delGAG
  • NM_181798.2:c.469_471delGAG
  • NP_000209.2:p.Glu284del
  • NP_000209.2:p.Glu284del
  • NP_000209.2:p.Glu284del
  • NP_001393765.1:p.Glu284del
  • NP_001393766.1:p.Glu194del
  • NP_861463.1:p.Glu157del
  • NP_861463.1:p.Glu157del
  • LRG_287t1:c.850_852del
  • LRG_287t2:c.469_471del
  • LRG_287:g.132925_132927del
  • LRG_287p1:p.Glu284del
  • LRG_287p2:p.Glu157del
  • NC_000011.9:g.2594145_2594147del
  • NM_000218.2:c.850_852del
  • NM_000218.2:c.850_852delGAG
  • NM_181798.1:c.469_471del
  • NR_040711.2:n.743_745delGAG
Protein change:
E157del
Links:
dbSNP: rs1064796353
NCBI 1000 Genomes Browser:
rs1064796353
Molecular consequence:
  • NM_000218.3:c.850_852del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001406836.1:c.850_852delGAG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406837.1:c.580_582delGAG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_181798.2:c.469_471delGAG - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV002680708Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 7, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002680708.2

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

Description

The c.850_852delGAG variant (also known as p.E284del) is located in coding exon 6 of the KCNQ1 gene. This variant results from an in-frame GAG deletion at nucleotide positions 850 to 852. This results in the in-frame deletion of a glutamic acid at codon 284, and is located in the transmembrane-spanning S5/pore domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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