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NM_172107.4(KCNQ2):c.691-13G>A AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000509153.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.691-13G>A]

NM_172107.4(KCNQ2):c.691-13G>A

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.691-13G>A
HGVS:
  • NC_000020.11:g.63442544C>T
  • NG_009004.2:g.35097G>A
  • NM_004518.6:c.691-13G>A
  • NM_172106.3:c.691-13G>A
  • NM_172107.4:c.691-13G>AMANE SELECT
  • NM_172108.5:c.691-13G>A
  • NM_172109.3:c.691-13G>A
  • NC_000020.10:g.62073897C>T
  • NM_004518.4:c.691-13G>A
  • NM_172107.2:c.691-13G>A
Links:
dbSNP: rs547887704
NCBI 1000 Genomes Browser:
rs547887704
Molecular consequence:
  • NM_004518.6:c.691-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172106.3:c.691-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172107.4:c.691-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172108.5:c.691-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172109.3:c.691-13G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607253GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607253.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Sep 29, 2024