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NM_000218.3(KCNQ1):c.760_768del (p.Val254_Phe256del) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000182332.4

Allele description [Variation Report for NM_000218.3(KCNQ1):c.760_768del (p.Val254_Phe256del)]

NM_000218.3(KCNQ1):c.760_768del (p.Val254_Phe256del)

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.760_768del (p.Val254_Phe256del)
HGVS:
  • NC_000011.10:g.2572089_2572097del
  • NG_008935.1:g.132099_132107del
  • NM_000218.3:c.760_768delMANE SELECT
  • NM_001406836.1:c.760_768delGTGGTCTTC
  • NM_001406837.1:c.490_498delGTGGTCTTC
  • NM_181798.2:c.379_387delGTGGTCTTC
  • NP_000209.2:p.Val254_Phe256del
  • NP_000209.2:p.Val254_Phe256del
  • NP_001393765.1:p.Val254_Phe256del
  • NP_001393766.1:p.Val164_Phe166del
  • NP_861463.1:p.Val127_Phe129del
  • NP_861463.1:p.Val127_Phe129del
  • LRG_287t1:c.760_768del
  • LRG_287t2:c.379_387del
  • LRG_287:g.132099_132107del
  • LRG_287p1:p.Val254_Phe256del
  • LRG_287p2:p.Val127_Phe129del
  • NC_000011.9:g.2593319_2593327del
  • NM_000218.2:c.760_768delGTGGTCTTC
  • NM_000218.2:c.760_768delGTGGTCTTC
  • NM_181798.1:c.379_387del
  • NR_040711.2:n.653_661delGTGGTCTTC
  • p.V254_F256del
Links:
dbSNP: rs397508124
NCBI 1000 Genomes Browser:
rs397508124
Molecular consequence:
  • NM_000218.3:c.760_768del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001406836.1:c.760_768delGTGGTCTTC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406837.1:c.490_498delGTGGTCTTC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_181798.2:c.379_387delGTGGTCTTC - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000234635GeneDx
no classification provided

(GeneDx Variant Classification (06012015))		not providedgermlineclinical 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, SCV000234635.3

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

Description

.The c.760_768delGTGGTCTTC variant in the KCNQ1 gene has been reported previously in association with LQTS. This variant results in a deletion of three amino acids (Valine-Valine-Phenylalanine) starting at amino acid position 254, a region that is conserved across species. Several missense mutations at codon 254 (Val254Leu, Val254Met) have been reported in association with LQTS, supporting the functional importance of this region of the protein.

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

Last Updated: Mar 26, 2023