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NM_057176.3(BSND):c.-42_-1dup AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2023
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:
RCV003324257.2

Allele description [Variation Report for NM_057176.3(BSND):c.-42_-1dup]

NM_057176.3(BSND):c.-42_-1dup

Gene:
BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_057176.3(BSND):c.-42_-1dup
HGVS:
  • NC_000001.11:g.54999145_54999186dup
  • NG_008965.2:g.5213_5254dup
  • NM_057176.3:c.-42_-1dupMANE SELECT
  • LRG_1282t1:c.-42_-1dup
  • LRG_1282:g.5213_5254dup
  • NC_000001.10:g.55464818_55464859dup
  • NM_057176.2:c.-42_-1dup42
Molecular consequence:
  • NM_057176.3:c.-42_-1dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004029804Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 19, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029804.1

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

Description

Variant summary: BSND c.-42_-1dup is located in the untranslated mRNA region upstream of the initiation codon. Computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 151830 control chromosomes (gnomAD v3.1.2). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-42_-1dup in individuals affected with Bartter Syndrome, Type 4a and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 3, 2023