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NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup) AND Pulmonary hypertension, primary, 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000704568.6

Allele description

NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup)

Gene:
KCNK3:potassium two pore domain channel subfamily K member 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_002246.3(KCNK3):c.646_651dup (p.Thr216_Gln217dup)
HGVS:
  • NC_000002.12:g.26728029_26728034dup
  • NG_033884.1:g.40317_40322dup
  • NM_002246.3:c.646_651dupMANE SELECT
  • NP_002237.1:p.Thr216_Gln217dup
  • NC_000002.11:g.26950892_26950893insGCAGAC
  • NC_000002.11:g.26950897_26950902dup
  • NM_002246.2:c.646_651dupACGCAG
Links:
dbSNP: rs1558604795
NCBI 1000 Genomes Browser:
rs1558604795
Molecular consequence:
  • NM_002246.3:c.646_651dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Pulmonary hypertension, primary, 4
Identifiers:
MONDO: MONDO:0014136; MedGen: C3809198; Orphanet: 422; OMIM: 615344

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000833521Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 1, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000833521.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant, c.646_651dupACGCAG, results in the insertion of 2 amino acid(s) to the KCNK3 protein (p.Thr216_Gln217dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNK3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024