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NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) AND Bartter disease type 4B

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 22, 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:
RCV001578909.2

Allele description [Variation Report for NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)]

NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)

Genes:
LOC106501713:CLCNKB recombination region [Gene]
CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)
HGVS:
  • NC_000001.11:g.16048568C>G
  • NG_013079.1:g.9817C>G
  • NG_042865.1:g.4076C>G
  • NM_000085.5:c.641C>GMANE SELECT
  • NP_000076.2:p.Ala214Gly
  • NP_000076.2:p.Ala214Gly
  • NC_000001.10:g.16375063C>G
  • NM_000085.4:c.641C>G
Protein change:
A214G
Links:
dbSNP: rs1889789
NCBI 1000 Genomes Browser:
rs1889789
Molecular consequence:
  • NM_000085.5:c.641C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bartter disease type 4B
Synonyms:
Bartter syndrome, type 4b; BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; Bartter syndrome, type 4b, digenic
Identifiers:
MONDO: MONDO:0000909; MedGen: C4310805; Orphanet: 112; OMIM: 613090

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001806267Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001806267.1

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

Last Updated: Sep 29, 2024