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NM_020922.5(WNK3):c.4000dup (p.Arg1334fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 7, 2023
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:
RCV003311582.1

Allele description [Variation Report for NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)]

NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)

Gene:
WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
HGVS:
  • NC_000023.11:g.54238356dup
  • NG_021259.2:g.124650dup
  • NM_001002838.4:c.3859dup
  • NM_001395166.1:c.3859dup
  • NM_020922.5:c.4000dupMANE SELECT
  • NP_001002838.1:p.Arg1287fs
  • NP_001382095.1:p.Arg1287fs
  • NP_065973.2:p.Arg1334Profs
  • NP_065973.2:p.Arg1334fs
  • NC_000023.10:g.54264789dup
  • NM_020922.4:c.4000dup
Protein change:
R1287fs
Molecular consequence:
  • NM_001002838.4:c.3859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001395166.1:c.3859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020922.5:c.4000dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Congenital laryngomalacia
Synonyms:
Laryngomalacia
Identifiers:
MONDO: MONDO:0007878; MedGen: C0264303; OMIM: 150280; Human Phenotype Ontology: HP:0001601
Name:
Retrognathia
Synonyms:
retrognathism
Identifiers:
MedGen: C0035353; Human Phenotype Ontology: HP:0000278
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Subglottic stenosis
Identifiers:
MedGen: C0238441; Human Phenotype Ontology: HP:0001607
Name:
Intellectual disability, moderate
Synonyms:
Moderae intellectual disability
Identifiers:
MedGen: C0026351; Human Phenotype Ontology: HP:0002342
Name:
Sleep apnea
Synonyms:
Sleep apnea syndrome
Identifiers:
MONDO: MONDO:0005296; MedGen: C0037315; Human Phenotype Ontology: HP:0010535
Name:
Motor stereotypies
Synonyms:
Stereotypic behavior; Abnormal repetitive mannerisms
Identifiers:
MedGen: C0038271; Human Phenotype Ontology: HP:0000733

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004009632HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 7, 2023) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV004009632.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024