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NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Nov 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001610480.10

Allele description [Variation Report for NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)]

NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)

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.929C>T (p.Pro310Leu)
HGVS:
  • NC_000012.12:g.5045076C>T
  • NG_012198.1:g.6158C>T
  • NM_002234.4:c.929C>TMANE SELECT
  • NP_002225.2:p.Pro310Leu
  • NC_000012.11:g.5154242C>T
  • NM_002234.2:c.929C>T
  • NM_002234.3:c.929C>T
Protein change:
P310L
Links:
dbSNP: rs17215402
NCBI 1000 Genomes Browser:
rs17215402
Molecular consequence:
  • NM_002234.4:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001834850GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Nov 1, 2018)
germlineclinical testing

Citation Link,

SCV004132401CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Nov 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001834850.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004132401.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

KCNA5: BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 15, 2024