NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 2016
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:
RCV002314147.9

Allele description [Variation Report for NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)]

NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)

Gene:
KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)
HGVS:
  • NC_000008.11:g.132175552A>G
  • NG_008854.2:g.310206T>C
  • NM_001204824.2:c.474T>C
  • NM_004519.4:c.834T>CMANE SELECT
  • NP_001191753.1:p.Leu158=
  • NP_004510.1:p.Leu278=
  • NC_000008.10:g.133187799A>G
  • NM_004519.3:c.834T>C
Links:
dbSNP: rs769657433
NCBI 1000 Genomes Browser:
rs769657433
Molecular consequence:
  • NM_001204824.2:c.474T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004519.4:c.834T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848107Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 27, 2016) 		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, SCV000848107.4

#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: Feb 25, 2025