NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2018
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:
RCV002424916.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)]

NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
HGVS:
  • NC_000020.11:g.63407053C>T
  • NG_009004.2:g.70588G>A
  • NM_004518.6:c.2126G>A
  • NM_172106.3:c.2156G>A
  • NM_172107.4:c.2210G>AMANE SELECT
  • NM_172108.5:c.2117G>A
  • NP_004509.2:p.Gly709Asp
  • NP_742104.1:p.Gly719Asp
  • NP_742105.1:p.Gly737Asp
  • NP_742106.1:p.Gly706Asp
  • NC_000020.10:g.62038406C>T
  • NM_172107.2:c.2210G>A
Protein change:
G706D
Links:
dbSNP: rs751657917
NCBI 1000 Genomes Browser:
rs751657917
Molecular consequence:
  • NM_004518.6:c.2126G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.2210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.2117G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002730812Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 26, 2018) 		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, SCV002730812.2

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

Description

The p.G737D variant (also known as c.2210G>A), located in coding exon 17 of the KCNQ2 gene, results from a G to A substitution at nucleotide position 2210. The glycine at codon 737 is replaced by aspartic acid, an amino acid with similar properties. This variant did not co-segregate with disease in one individual tested in our laboratory. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024