NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 23, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000187853.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)]

NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)

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.431G>A (p.Arg144Gln)
Other names:
p.R144Q:CGG>CAG; KCNQ2
HGVS:
  • NC_000020.11:g.63445321C>T
  • NG_009004.2:g.32320G>A
  • NM_004518.6:c.431G>A
  • NM_172106.3:c.431G>A
  • NM_172107.4:c.431G>AMANE SELECT
  • NM_172108.5:c.431G>A
  • NM_172109.3:c.431G>A
  • NP_004509.2:p.Arg144Gln
  • NP_742104.1:p.Arg144Gln
  • NP_742105.1:p.Arg144Gln
  • NP_742106.1:p.Arg144Gln
  • NP_742107.1:p.Arg144Gln
  • NC_000020.10:g.62076674C>T
  • NM_004518.5:c.431G>A
  • NM_172107.2:c.431G>A
  • NM_172107.3:c.431G>A
Protein change:
R144Q
Links:
dbSNP: rs796052618
NCBI 1000 Genomes Browser:
rs796052618
Molecular consequence:
  • NM_004518.6:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241453GeneDxcriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

Citation Link,

SCV001249243CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Apr 1, 2019)
germlineclinical testing

Citation Link,

SCV001448113Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001760741Laboratoire Génétique Moléculaire, CHRU TOURScriteria provided, single submitter
Likely pathogenic
(Jan 16, 2020)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000241453.10

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

Description

Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32860008, 28628100, 23934111, 25740509, 29186148, 30440138, 29655203, 30174244)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249243.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001448113.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

From Laboratoire Génétique Moléculaire, CHRU TOURS, SCV001760741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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