U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV002444571.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)]

NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)

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.2281G>A (p.Ala761Thr)
HGVS:
  • NC_000020.11:g.63406982C>T
  • NG_009004.2:g.70659G>A
  • NM_004518.6:c.2197G>A
  • NM_172106.3:c.2227G>A
  • NM_172107.4:c.2281G>AMANE SELECT
  • NM_172108.5:c.2188G>A
  • NP_004509.2:p.Ala733Thr
  • NP_742104.1:p.Ala743Thr
  • NP_742105.1:p.Ala761Thr
  • NP_742106.1:p.Ala730Thr
  • NC_000020.10:g.62038335C>T
  • NM_172107.2:c.2281G>A
Protein change:
A730T
Links:
dbSNP: rs587780366
NCBI 1000 Genomes Browser:
rs587780366
Molecular consequence:
  • NM_004518.6:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.2227G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.2281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002734693Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002734693.2

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

Description

The p.A761T variant (also known as c.2281G>A), located in coding exon 17 of the KCNQ2 gene, results from a G to A substitution at nucleotide position 2281. The alanine at codon 761 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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: Oct 20, 2024