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NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 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:
RCV000520593.13

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)]

NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)

Genes:
KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
HGVS:
  • NC_000011.10:g.2662051CT[1]
  • NG_008935.1:g.222061CT[1]
  • NG_016178.2:g.42945AG[1]
  • NM_000218.3:c.1486_1487delMANE SELECT
  • NM_001406836.1:c.1390_1391del
  • NM_001406837.1:c.1216_1217del
  • NM_001406838.1:c.946_947del
  • NM_181798.2:c.1105_1106del
  • NP_000209.2:p.Leu496Alafs
  • NP_000209.2:p.Leu496fs
  • NP_001393765.1:p.Leu464fs
  • NP_001393766.1:p.Leu406fs
  • NP_001393767.1:p.Leu316fs
  • NP_861463.1:p.Leu369Alafs
  • NP_861463.1:p.Leu369fs
  • LRG_1052t1:n.37945AG[1]
  • LRG_287t1:c.1484_1485CT[1]
  • LRG_287t2:c.1103_1104CT[1]
  • LRG_1052:g.42945AG[1]
  • LRG_287:g.222061CT[1]
  • LRG_287p1:p.Leu496Alafs
  • LRG_287p2:p.Leu369Alafs
  • NC_000011.9:g.2683281CT[1]
  • NC_000011.9:g.2683281_2683282del
  • NM_000218.2:c.1484_1485CT[1]
  • NM_000218.2:c.1486_1487del
  • NM_000218.2:c.1486_1487del
  • NM_000218.2:c.1486_1487delCT
  • NM_181798.1:c.1103_1104CT[1]
  • NR_002728.3:n.37945AG[1]
  • NR_002728.4:n.37941_37942AG[1]
  • NR_040711.2:n.1377_1378CT[1]
Protein change:
L316fs
Links:
dbSNP: rs397508090
NCBI 1000 Genomes Browser:
rs397508090
Molecular consequence:
  • NM_000218.3:c.1486_1487del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406836.1:c.1390_1391del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406837.1:c.1216_1217del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406838.1:c.946_947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181798.2:c.1105_1106del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000617234GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jan 19, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000617234.4

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29511324, 22956155, 24372464, 16414944, 27917693, 28438721)

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

Last Updated: Jul 15, 2024