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NM_057176.3(BSND):c.-156G>C AND Bartter disease type 4A

Clinical significance:Benign (Last evaluated: Jan 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000360477.5

Allele description [Variation Report for NM_057176.3(BSND):c.-156G>C]

NM_057176.3(BSND):c.-156G>C

Gene:
BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_057176.3(BSND):c.-156G>C
HGVS:
  • NC_000001.11:g.54999031G>C
  • NG_008965.2:g.5099G>C
  • NM_057176.3:c.-156G>CMANE SELECT
  • LRG_1282t1:c.-156G>C
  • LRG_1282:g.5099G>C
  • NC_000001.10:g.55464704G>C
  • NG_008965.1:g.5088G>C
  • NM_057176.2:c.-156G>C
Links:
dbSNP: rs183925883
NCBI 1000 Genomes Browser:
rs183925883
Molecular consequence:
  • NM_057176.3:c.-156G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000358172Illumina Laboratory Services,Illuminacriteria provided, single submitter
Benign
(Jan 13, 2018) 		germlineclinical testing

Citation Link

Summary from all submissions

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EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000358172.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2023