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NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 26, 2017
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:
RCV002402095.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=)]

NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=)

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.1602G>A (p.Pro534=)
HGVS:
  • NC_000020.11:g.63414117C>T
  • NG_009004.2:g.63524G>A
  • NM_004518.6:c.1518G>A
  • NM_172106.3:c.1548G>A
  • NM_172107.4:c.1602G>AMANE SELECT
  • NM_172108.5:c.1509G>A
  • NP_004509.2:p.Pro506=
  • NP_742104.1:p.Pro516=
  • NP_742105.1:p.Pro534=
  • NP_742106.1:p.Pro503=
  • NC_000020.10:g.62045470C>T
  • NM_172107.2:c.1602G>A
  • p.Pro534Pro
Links:
dbSNP: rs775089685
NCBI 1000 Genomes Browser:
rs775089685
Molecular consequence:
  • NM_004518.6:c.1518G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172106.3:c.1548G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172107.4:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172108.5:c.1509G>A - 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
SCV002707885Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 26, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.

Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.

PubMed [citation]
PMID:
25959266

Details of each submission

From Ambry Genetics, SCV002707885.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

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: Sep 29, 2024