NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) 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:: RCV003311800.1

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004011962	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004011962

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, et al.

Nat Genet. 2001 Aug;28(4):365-70.

PubMed [citation]

PMID:: 11479539

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011962.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 11, 2023

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