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NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) AND Congenital generalized lipodystrophy type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 11, 2018
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:
RCV000754917.3

Allele description [Variation Report for NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)]

NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)
HGVS:
  • NC_000011.10:g.62692669CT[2]
  • NG_008461.1:g.21902GA[2]
  • NG_033077.1:g.2227GA[2]
  • NM_001122955.4:c.759_760delMANE SELECT
  • NM_001130702.2:c.567_568del
  • NM_001386027.1:c.759_760del
  • NM_001386028.1:c.759_760del
  • NM_032667.6:c.567_568del
  • NP_001116427.1:p.Asn254fs
  • NP_001124174.2:p.Asn190fs
  • NP_001372956.1:p.Asn254fs
  • NP_001372957.1:p.Asn254fs
  • NP_116056.3:p.Asn190fs
  • LRG_235t2:c.567_568del
  • LRG_235:g.21902GA[2]
  • LRG_235p2:p.Asn190fs
  • NC_000011.9:g.62460141CT[2]
  • NM_001122955.3:c.759_760delGA
  • NR_037946.1:n.3275GA[2]
Protein change:
N190fs
Links:
dbSNP: rs1565144681
NCBI 1000 Genomes Browser:
rs1565144681
Molecular consequence:
  • NM_001122955.4:c.759_760del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130702.2:c.567_568del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386027.1:c.759_760del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386028.1:c.759_760del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032667.6:c.567_568del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037946.1:n.3275GA[2] - 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
SCV000787618Laboratory of Metabolic Disorders, Peking University First Hospital
no assertion criteria provided
Pathogenic
(May 11, 2018) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Metabolic Disorders, Peking University First Hospital, SCV000787618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023