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NM_018979.4(WNK1):c.2373+18_2373+19insC AND multiple conditions

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 16, 2024
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:
RCV002082026.7

Allele description [Variation Report for NM_018979.4(WNK1):c.2373+18_2373+19insC]

NM_018979.4(WNK1):c.2373+18_2373+19insC

Gene:
WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_018979.4(WNK1):c.2373+18_2373+19insC
HGVS:
  • NC_000012.12:g.878379_878380insC
  • NG_007984.3:g.130321_130322insC
  • NM_001184985.2:c.3612+18_3612+19insC
  • NM_014823.3:c.2370+18_2370+19insC
  • NM_018979.4:c.2373+18_2373+19insCMANE SELECT
  • NM_213655.5:c.3867+18_3867+19insC
  • LRG_247t1:c.2373+18_2373+19insC
  • LRG_247t2:c.3867+18_3867+19insC
  • LRG_247:g.130321_130322insC
  • NC_000012.11:g.987545_987546insC
Links:
dbSNP: rs760953797
NCBI 1000 Genomes Browser:
rs760953797
Molecular consequence:
  • NM_001184985.2:c.3612+18_3612+19insC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014823.3:c.2370+18_2370+19insC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018979.4:c.2373+18_2373+19insC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213655.5:c.3867+18_3867+19insC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neuropathy, hereditary sensory and autonomic, type 2A (HSAN2A)
Synonyms:
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300
Name:
Pseudohypoaldosteronism type 2C (PHA2C)
Identifiers:
MONDO: MONDO:0013778; MedGen: C1840391; Orphanet: 757; OMIM: 614492

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002424062Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Jan 16, 2024)
germlineclinical testing

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

SCV002795446Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Sep 15, 2021)
unknownclinical testing

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

Summary from all submissions

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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002424062.3

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

From Fulgent Genetics, Fulgent Genetics, SCV002795446.1

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

Last Updated: Sep 29, 2024