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NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs) AND Berardinelli-Seip congenital lipodystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003312923.1

Allele description [Variation Report for NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)]

NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)
HGVS:
  • NC_000011.10:g.62705331_62705349del
  • NG_008461.1:g.9228_9246del
  • NM_001122955.4:c.358_376delMANE SELECT
  • NM_001130702.2:c.166_184del
  • NM_001386027.1:c.358_376del
  • NM_001386028.1:c.358_376del
  • NM_032667.6:c.166_184del
  • NP_001116427.1:p.Tyr120Thrfs
  • NP_001116427.1:p.Tyr120fs
  • NP_001124174.2:p.Tyr56fs
  • NP_001372956.1:p.Tyr120fs
  • NP_001372957.1:p.Tyr120fs
  • NP_116056.3:p.Tyr56fs
  • LRG_235t1:c.356_374del19
  • LRG_235t2:c.166_184del
  • LRG_235:g.9228_9246del
  • LRG_235p1:p.Tyr120Thrfs
  • LRG_235p2:p.Tyr56fs
  • NC_000011.9:g.62472803_62472821del
  • NM_001122955.3:c.356_374del19
  • NM_032667.6:c.166_184del19
  • NR_037946.1:n.2878_2896del
  • NR_037948.1:n.958_976del19
  • NR_037949.1:n.958_976del19
Protein change:
Y120fs
Molecular consequence:
  • NM_001122955.4:c.358_376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130702.2:c.166_184del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386027.1:c.358_376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386028.1:c.358_376del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032667.6:c.166_184del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037946.1:n.2878_2896del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Berardinelli-Seip congenital lipodystrophy
Identifiers:
MONDO: MONDO:0018883; MedGen: CN262437

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004011960Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7.

PubMed [citation]
PMID:
14557463

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023