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NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 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:
RCV002454351.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=)]

NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=)

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.1011C>T (p.Ile337=)
HGVS:
  • NC_000011.10:g.2583524C>T
  • NG_008935.1:g.143534C>T
  • NM_000218.3:c.1011C>TMANE SELECT
  • NM_001406836.1:c.1011C>T
  • NM_001406837.1:c.741C>T
  • NM_001406838.1:c.567C>T
  • NM_181798.2:c.630C>T
  • NP_000209.2:p.Ile337=
  • NP_000209.2:p.Ile337=
  • NP_001393765.1:p.Ile337=
  • NP_001393766.1:p.Ile247=
  • NP_001393767.1:p.Ile189=
  • NP_861463.1:p.Ile210=
  • NP_861463.1:p.Ile210=
  • LRG_287t1:c.1011C>T
  • LRG_287t2:c.630C>T
  • LRG_287:g.143534C>T
  • LRG_287p1:p.Ile337=
  • LRG_287p2:p.Ile210=
  • NC_000011.9:g.2604754C>T
  • NM_000218.2:c.1011C>T
  • NM_181798.1:c.630C>T
  • NR_040711.2:n.904C>T
Links:
dbSNP: rs794728521
NCBI 1000 Genomes Browser:
rs794728521
Molecular consequence:
  • NM_000218.3:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406836.1:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406837.1:c.741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406838.1:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.2:c.630C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002614565Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002614565.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024