NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) AND not provided

Clinical significance:Likely benign (Last evaluated: Sep 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001572727.4

Allele description [Variation Report for NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)]

NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)

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.751G>A (p.Ala251Thr)
HGVS:
  • NC_000012.12:g.5044898G>A
  • NG_012198.1:g.5980G>A
  • NM_002234.4:c.751G>AMANE SELECT
  • NP_002225.2:p.Ala251Thr
  • NC_000012.11:g.5154064G>A
  • NM_002234.2:c.751G>A
  • NM_002234.3:c.751G>A
Protein change:
A251T
Links:
dbSNP: rs12720442
NCBI 1000 Genomes Browser:
rs12720442
Molecular consequence:
  • NM_002234.4:c.751G>A - 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
SCV001797530Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001812026GeneDxcriteria provided, single submitter
Likely benign
(Sep 21, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797530.1

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

From GeneDx, SCV001812026.1

#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: Oct 2, 2021

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