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NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 15, 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:
RCV000486506.2

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572986GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 15, 2017) 		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, SCV000572986.4

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

Description

An in-frame deletion that is likely pathogenic was identified in the KCNQ1 gene. The c.850_852delGAG variant has not been published as pathogenic nor been reported as benign to our knowledge. c.850_852delGAG results in an in-frame deletion of a glutamic acid residue at position 284, denoted p.Glu284del. Multiple in-frame deletions in the KCNQ1 gene, as well as a pathogenic missense variant in this residue (E284K), have been reported in HGMD in association with LQTS (Stenson et al., 2014). Furthermore, the c.850_852delGAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, c.850_852delGAG 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: May 1, 2024