NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001589050.4

Allele description [Variation Report for NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)]

NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)

Gene:
KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)
HGVS:
  • NC_000012.12:g.5045066C>T
  • NG_012198.1:g.6148C>T
  • NM_002234.4:c.919C>TMANE SELECT
  • NP_002225.2:p.Pro307Ser
  • NC_000012.11:g.5154232C>T
  • NM_002234.2:c.919C>T
  • NM_002234.3:c.919C>T
Protein change:
P307S
Links:
dbSNP: rs17215409
NCBI 1000 Genomes Browser:
rs17215409
Molecular consequence:
  • NM_002234.4:c.919C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001825802GeneDxcriteria provided, single submitter
Likely benign
(Dec 29, 2020)
germlineclinical testing

Citation Link,

SCV001954525Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001825802.1

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

Description

This variant is associated with the following publications: (PMID: 16411137, 24068186, 22402074, 21507821, 18209767, 15735608)

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001954525.1

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

Last Updated: Nov 6, 2021

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