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NM_172107.4(KCNQ2):c.691-5C>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 18, 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:
RCV000827932.6

Allele description [Variation Report for NM_172107.4(KCNQ2):c.691-5C>T]

NM_172107.4(KCNQ2):c.691-5C>T

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.691-5C>T
HGVS:
  • NC_000020.11:g.63442536G>A
  • NG_009004.2:g.35105C>T
  • NM_004518.6:c.691-5C>T
  • NM_172106.3:c.691-5C>T
  • NM_172107.4:c.691-5C>TMANE SELECT
  • NM_172108.5:c.691-5C>T
  • NM_172109.3:c.691-5C>T
  • NC_000020.10:g.62073889G>A
  • NM_172107.2:c.691-5C>T
Links:
dbSNP: rs886056921
NCBI 1000 Genomes Browser:
rs886056921
Molecular consequence:
  • NM_004518.6:c.691-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172106.3:c.691-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172107.4:c.691-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172108.5:c.691-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172109.3:c.691-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000969603GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 18, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000969603.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024