NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) AND Primary pulmonary hypertension 1

Clinical significance:Uncertain significance (Last evaluated: Jun 24, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000171651.2

Allele description [Variation Report for NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)]

NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)

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.633G>C (p.Glu211Asp)
HGVS:
  • NC_000012.12:g.5044780G>C
  • NG_012198.1:g.5862G>C
  • NM_002234.4:c.633G>CMANE SELECT
  • NP_002225.2:p.Glu211Asp
  • NC_000012.11:g.5153946G>C
  • NM_002234.2:c.633G>C
  • NM_002234.3:c.633G>C
Protein change:
E211D
Links:
dbSNP: rs35853292
NCBI 1000 Genomes Browser:
rs35853292
Molecular consequence:
  • NM_002234.4:c.633G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary pulmonary hypertension 1 (PPH1)
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000050687Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeqcriteria provided, single submitter
Uncertain significance
(Jun 24, 2013)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

Description

The study set was not selected for affection status in relation to any cancer. HGMD phenotype assertion is uncertain. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details.

SCV000050687

Medical sequencing

SCV000050687

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown3not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section,National Institutes of Health - ClinSeq, SCV000050687.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2021

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