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NM_001122955.4(BSCL2):c.487-14G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 2017
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:
RCV000235758.1

Allele description [Variation Report for NM_001122955.4(BSCL2):c.487-14G>A]

NM_001122955.4(BSCL2):c.487-14G>A

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.487-14G>A
HGVS:
  • NC_000011.10:g.62694725C>T
  • NG_008461.1:g.19850G>A
  • NG_033077.1:g.175G>A
  • NM_001122955.4:c.487-14G>AMANE SELECT
  • NM_001130702.2:c.295-14G>A
  • NM_001386027.1:c.487-14G>A
  • NM_001386028.1:c.487-14G>A
  • NM_032667.6:c.295-14G>A
  • LRG_235t2:c.295-14G>A
  • LRG_235:g.19850G>A
  • NC_000011.9:g.62462197C>T
Links:
dbSNP: rs189771133
NCBI 1000 Genomes Browser:
rs189771133
Molecular consequence:
  • NM_001122955.4:c.487-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130702.2:c.295-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386027.1:c.487-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386028.1:c.487-14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032667.6:c.295-14G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293671GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 31, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293671.10

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

Description

The c.295-14 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.295-14 G>A variant is observed in 34/9732 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved. In-silico splice prediction models predict that c.295-14 G>A may damage the natural acceptor site in intron 3 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Feb 20, 2024