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NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2018
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:
RCV001008058.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer)]

NM_000218.3(KCNQ1):c.513del (p.Glu170_Tyr171insTer)

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.513del (p.Glu170_Tyr171insTer)
HGVS:
  • NC_000011.10:g.2570663del
  • NG_008935.1:g.130673del
  • NM_000218.3:c.513delMANE SELECT
  • NM_001406836.1:c.513delC
  • NM_001406837.1:c.243delC
  • NM_181798.2:c.132delC
  • NP_000209.2:p.Glu170_Tyr171insTer
  • NP_000209.2:p.Tyr171Terfs
  • NP_001393765.1:p.Tyr171Terfs
  • NP_001393766.1:p.Tyr81Terfs
  • NP_861463.1:p.Glu43_Tyr44insTer
  • NP_861463.1:p.Tyr44Terfs
  • LRG_287t1:c.513del
  • LRG_287t2:c.132del
  • LRG_287:g.130673del
  • LRG_287p1:p.Tyr171Terfs
  • LRG_287p2:p.Glu43_Tyr44insTer
  • NC_000011.9:g.2591893del
  • NM_000218.2:c.513delC
  • NM_181798.1:c.132del
  • NR_040711.2:n.406delC
Links:
dbSNP: rs1589956565
NCBI 1000 Genomes Browser:
rs1589956565
Molecular consequence:
  • NM_001406836.1:c.513delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406837.1:c.243delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181798.2:c.132delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000218.3:c.513del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406836.1:c.513delC - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406837.1:c.243delC - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.2:c.132delC - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001167791GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 18, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001167791.1

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

Description

The c.513delC pathogenic variant in the KCNQ1 gene has not been reported as a pathogenic or benign to our knowledge. This variant results in a premature stop codon at position tyrosine 171, denoted p.Y171X. The c.513delC variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other loss of function variants in the KCNQ1 gene, including nucleotide substitutions at the same position that also result in Y171X (c.513 C>G, c.513 C>A), have been reported in Human Gene Mutation Database in association with KCNQ1-related disorders (Stenson et al., 2014). Furthermore, the c.513delC variant is not observed in large population cohorts (Lek et al., 2016). In summary, c.513delC in the KCNQ1 gene is interpreted as a pathogenic variant.

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

Last Updated: Mar 26, 2023