NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) AND Pseudohypoaldosteronism type 2A

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000388274.13

Allele description [Variation Report for NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)]

NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)

Gene:

WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.33

Genomic location:

Preferred name:

NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)

HGVS:

NC_000012.11:g.994573_994575del
NC_000012.12:g.885409_885411del
NG_007984.3:g.137351_137353del
NM_001184985.2:c.5385_5387del
NM_014823.3:c.3864_3866del
NM_018979.4:c.4605_4607delMANE SELECT
NM_213655.5:c.5361_5363del
NP_001171914.1:p.Ser1796del
NP_055638.2:p.Ser1289del
NP_061852.3:p.Ser1536del
NP_998820.3:p.Ser1788del
NP_998820.3:p.Ser1788del
LRG_247t1:c.4605_4607del
LRG_247t2:c.5361_5363del
LRG_247:g.137351_137353del
LRG_247p1:p.Ser1536del
LRG_247p2:p.Ser1788del
NC_000012.11:g.994573_994575del
NC_000012.11:g.994575_994577del
NC_000012.11:g.994575_994577del
NC_000012.11:g.994575_994577delCAG
NM_018979.3:c.4605_4607delCAG
NM_213655.4:c.5361_5363del
NM_213655.4:c.5361_5363delCAG

Protein change:

S1289del

Links:

dbSNP: rs72650732

NCBI 1000 Genomes Browser:

rs72650732

Molecular consequence:

NM_001184985.2:c.5385_5387del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_014823.3:c.3864_3866del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_018979.4:c.4605_4607del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_213655.5:c.5361_5363del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Pseudohypoaldosteronism type 2A (PHA2A)
Synonyms:: HYPERTENSIVE HYPERKALEMIA, FAMILIAL; Hyperpotassemia and hypertension familial; Gordon hyperkalemia-hypertension syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007772; MedGen: C1840389; Orphanet: 757; OMIM: 145260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000381985	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000381985

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000381985.2

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

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

Last Updated: Apr 20, 2024

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