NM_057176.3(BSND):c.273-887_*576del AND Bartter disease type 4A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000004633.3

Allele description [Variation Report for NM_057176.3(BSND):c.273-887_*576del]

NM_057176.3(BSND):c.273-887_*576del

Gene:

BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_057176.3(BSND):c.273-887_*576del

HGVS:

NC_000001.11:g.55006110_55009204del
NG_008965.2:g.12178_15272del
NM_057176.3:c.273-887_*576delMANE SELECT
LRG_1282t1:c.273-887_*576del
LRG_1282:g.12178_15272del
NC_000001.10:g.55471783_55474877del

Note:

NCBI staff provided HGVS expressions for allelic variant 606412.0004 from the sequence across the breakpoint reported in Web Figure A of the paper by Birkenhager et al., 2001 (PubMed 11687798).

Nucleotide change:

EX3-EX4 DEL

Links:

OMIM: 606412.0004

Molecular consequence:

NM_057176.3:c.273-887_*576del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_057176.3:c.273-887_*576del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Bartter disease type 4A
Synonyms:: Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
Identifiers:: MONDO: MONDO:0011242; MedGen: C1865270; Orphanet: 112; OMIM: 602522

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024807	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024807

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F.

Nat Genet. 2001 Nov;29(3):310-4.

PubMed [citation]

PMID:: 11687798

Details of each submission

From OMIM, SCV000024807.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a consanguineous Lebanese family with Bartter syndrome with sensorineural deafness (BARTS4A; 602522), Birkenhager et al. (2001) identified homozygosity for deletion of exons 3 and 4 of the BSND gene.

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

Last Updated: Apr 15, 2023

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