U.S. flag

An official website of the United States government

NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter) AND Congenital generalized lipodystrophy type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 22, 2023
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:
RCV004786940.1

Allele description [Variation Report for NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter)]

NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter)

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.968G>A (p.Trp323Ter)
HGVS:
  • NC_000011.10:g.62691317C>T
  • NG_008461.1:g.23258G>A
  • NG_033077.1:g.3583G>A
  • NM_001122955.4:c.968G>AMANE SELECT
  • NM_001130702.2:c.672-176G>A
  • NM_001386027.1:c.968G>A
  • NM_001386028.1:c.968G>A
  • NM_032667.6:c.776G>A
  • NP_001116427.1:p.Trp323Ter
  • NP_001116427.1:p.Trp323Ter
  • NP_001372956.1:p.Trp323Ter
  • NP_001372957.1:p.Trp323Ter
  • NP_116056.3:p.Trp259Ter
  • LRG_235t1:c.968G>A
  • LRG_235t2:c.776G>A
  • LRG_235:g.23258G>A
  • LRG_235p1:p.Trp323Ter
  • LRG_235p2:p.Trp259Ter
  • NC_000011.9:g.62458789C>T
  • NM_001122955.3:c.968G>A
  • NR_037946.1:n.3488G>A
  • NR_037948.1:n.1570G>A
  • NR_037949.1:n.1570G>A
Protein change:
W259*
Molecular consequence:
  • NM_001130702.2:c.672-176G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_037946.1:n.3488G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001122955.4:c.968G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386027.1:c.968G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386028.1:c.968G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032667.6:c.776G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005400961Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 22, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV005400961.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The stop gained variant c.968G>A(p.Trp323Ter) in BSCL2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The nucleotide change c.968G>A in BSCL2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: Dec 22, 2024