NM_000085.5(CLCNKB):c.1708_1734dup (p.Lys578_Tyr579insValValThrSerThrAspValAlaLys) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 2022
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:: RCV003028245.2

Allele description

NM_000085.5(CLCNKB):c.1708_1734dup (p.Lys578_Tyr579insValValThrSerThrAspValAlaLys)

Genes:

LOC106501713:CLCNKB recombination region [Gene]
CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_000085.5(CLCNKB):c.1708_1734dup (p.Lys578_Tyr579insValValThrSerThrAspValAlaLys)

HGVS:

NC_000001.11:g.16053724_16053750dup
NG_013079.1:g.14973_14999dup
NG_013079.2:g.14944_14970dup
NG_042865.1:g.9232_9258dup
NM_000085.5:c.1708_1734dupMANE SELECT
NM_001165945.2:c.1201_1227dup
NP_000076.2:p.Lys578_Tyr579insValValThrSerThrAspValAlaLys
NP_001159417.2:p.Lys409_Tyr410insValValThrSerThrAspValAlaLys
NC_000001.10:g.16380214_16380215insCAAGGTTGTGACCTCCACAGACGTGGC
NC_000001.10:g.16380219_16380245dup

Molecular consequence:

NM_000085.5:c.1708_1734dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001165945.2:c.1201_1227dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Hypertension, Pregnancy-Induced
Hypertension, Pregnancy-Induced
A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% ...<br/>Year introduced: 2005

MeSH

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
SCV003307546	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 19, 2022)	germline	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

SCV003307546

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 19, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Invitae, SCV003307546.2

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

Description

This variant, c.1708_1734dup, results in the insertion of 9 amino acid(s) of the CLCNKB protein (p.Val570_Lys578dup), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CLCNKB-related conditions. This variant is present in population databases (rs750123250, gnomAD 0.002%).

#	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: Feb 20, 2024

ClinVar

Relating variation to medicine