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NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) AND Congenital generalized lipodystrophy type 2

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000412545.3

Allele description [Variation Report for NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)]

NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)
HGVS:
  • NC_000011.10:g.62705320delinsTCC
  • NG_008461.1:g.9255delinsGGA
  • NM_001122955.4:c.385delinsGGAMANE SELECT
  • NM_001130702.2:c.193delinsGGA
  • NM_001386027.1:c.385delinsGGA
  • NM_001386028.1:c.385delinsGGA
  • NM_032667.6:c.193delinsGGA
  • NP_001116427.1:p.Pro129fs
  • NP_001124174.2:p.Pro65fs
  • NP_001372956.1:p.Pro129fs
  • NP_001372957.1:p.Pro129fs
  • NP_116056.3:p.Pro65fs
  • LRG_235t2:c.193delinsGGA
  • LRG_235:g.9255delinsGGA
  • LRG_235p2:p.Pro65fs
  • NC_000011.9:g.62472792delinsTCC
  • NM_032667.5:c.193delCinsGGA
  • NM_032667.6:c.193delCinsGGA
  • NP_116056.3:p.Pro65ArgfsTer28
  • NR_037946.1:n.2905delinsGGA
  • c.537_538delCinsGGA
Protein change:
P129fs
Links:
dbSNP: rs1057517659
NCBI 1000 Genomes Browser:
rs1057517659
Molecular consequence:
  • NM_001122955.4:c.385delinsGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130702.2:c.193delinsGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386027.1:c.385delinsGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386028.1:c.385delinsGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032667.6:c.193delinsGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037946.1:n.2905delinsGGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital generalized lipodystrophy type 2 (CGL2)
Synonyms:
BERARDINELLI SYNDROME; BRUNZELL SYNDROME, BSCL2-RELATED; SEIP SYNDROME
Identifiers:
MONDO: MONDO:0010020; MedGen: C1720863; Orphanet: 528; OMIM: 269700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000490131GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000490131.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023