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NM_018979.4(WNK1):c.5442G>A (p.Ala1814=) AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV004693585.1

Allele description [Variation Report for NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)]

NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)

Gene:
WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)
HGVS:
  • NC_000012.12:g.889217G>A
  • NG_007984.3:g.141159G>A
  • NM_001184985.2:c.6222G>A
  • NM_014823.3:c.4701G>A
  • NM_018979.4:c.5442G>AMANE SELECT
  • NM_213655.5:c.6198G>A
  • NP_001171914.1:p.Ala2074=
  • NP_055638.2:p.Ala1567=
  • NP_061852.3:p.Ala1814=
  • NP_998820.3:p.Ala2066=
  • NP_998820.3:p.Ala2066=
  • LRG_247t1:c.5442G>A
  • LRG_247t2:c.6198G>A
  • LRG_247:g.141159G>A
  • LRG_247p1:p.Ala1814=
  • LRG_247p2:p.Ala2066=
  • NC_000012.11:g.998383G>A
  • NC_000012.11:g.998383G>A
  • NM_213655.4:c.6198G>A
Links:
dbSNP: rs557930357
NCBI 1000 Genomes Browser:
rs557930357
Molecular consequence:
  • NM_001184985.2:c.6222G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014823.3:c.4701G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018979.4:c.5442G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_213655.5:c.6198G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV005191596Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005191596.1

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

Last Updated: Sep 29, 2024