NM_032387.5(WNK4):c.1822del (p.Val608fs) AND Pseudohypoaldosteronism type 2B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 2021
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:: RCV001730098.1

Allele description [Variation Report for NM_032387.5(WNK4):c.1822del (p.Val608fs)]

NM_032387.5(WNK4):c.1822del (p.Val608fs)

Gene:

WNK4:WNK lysine deficient protein kinase 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_032387.5(WNK4):c.1822del (p.Val608fs)

HGVS:

NC_000017.11:g.42787858del
NG_016227.1:g.12228del
NM_001321299.2:c.814del
NM_032387.5:c.1822delMANE SELECT
NP_001308228.1:p.Val272fs
NP_115763.2:p.Val608fs
NC_000017.10:g.40939870del
NC_000017.10:g.40939876del

Protein change:

V272fs

Links:

dbSNP: rs762079039

NCBI 1000 Genomes Browser:

rs762079039

Molecular consequence:

NM_001321299.2:c.814del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032387.5:c.1822del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Pseudohypoaldosteronism type 2B (PHA2B)
Identifiers:: MONDO: MONDO:0013777; MedGen: C1840390; Orphanet: 757; OMIM: 614491

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001976928	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 6, 2021)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001976928

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 6, 2021)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001976928.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PM2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2025

ClinVar

Relating variation to medicine