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NM_000218.3(KCNQ1):c.1032+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 27, 2023
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:
RCV000182161.6

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1032+1G>A]

NM_000218.3(KCNQ1):c.1032+1G>A

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1032+1G>A
HGVS:
  • NC_000011.10:g.2583546G>A
  • NG_008935.1:g.143556G>A
  • NM_000218.3:c.1032+1G>AMANE SELECT
  • NM_001406836.1:c.1032+1G>A
  • NM_001406837.1:c.762+1G>A
  • NM_001406838.1:c.588+1G>A
  • NM_181798.2:c.651+1G>A
  • LRG_287t1:c.1032+1G>A
  • LRG_287:g.143556G>A
  • NC_000011.9:g.2604776G>A
  • NM_000218.2:c.1032+1G>A
Links:
dbSNP: rs397508070
NCBI 1000 Genomes Browser:
rs397508070
Molecular consequence:
  • NM_000218.3:c.1032+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406836.1:c.1032+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406837.1:c.762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406838.1:c.588+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_181798.2:c.651+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234464GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Nov 27, 2023) 		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, SCV000234464.13

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 16244680, 19716085, 18752142, 19862833, 34319147, 34505893, 26132555)

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

Last Updated: Sep 29, 2024