U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2015
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:
RCV000187953.10

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val)]

NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val)

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.1625C>T (p.Ala542Val)
Other names:
p.A542V:GCC>GTC
HGVS:
  • NC_000020.11:g.63414094G>A
  • NG_009004.2:g.63547C>T
  • NM_001382235.1:c.1571C>T
  • NM_004518.6:c.1541C>T
  • NM_172106.3:c.1571C>T
  • NM_172107.4:c.1625C>TMANE SELECT
  • NM_172108.5:c.1532C>T
  • NP_001369164.1:p.Ala524Val
  • NP_004509.2:p.Ala514Val
  • NP_742104.1:p.Ala524Val
  • NP_742105.1:p.Ala542Val
  • NP_742106.1:p.Ala511Val
  • NC_000020.10:g.62045447G>A
  • NM_172107.2:c.1625C>T
  • NM_172109.1:c.*19651C>T
Protein change:
A511V
Links:
dbSNP: rs796052648
NCBI 1000 Genomes Browser:
rs796052648
Molecular consequence:
  • NM_001382235.1:c.1571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000241556GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 17, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241556.11

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

Description

p.Ala542Val (GCC>GTC): c.1625 C>T in exon 14 of the KCNQ2 gene (NM_172107.2) A variant of unknown significance has been identified in the KCNQ2 gene. The A542V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species, and missense mutations in nearby residues have been reported in association with KCNQ2-related disorders, supporting the functional importance of this region of the protein. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A542V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANTV2-EPIV2-1 panel(s).

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

Last Updated: Oct 26, 2024