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NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) AND Severe neurodegenerative syndrome with lipodystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2018
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:
RCV001335244.1

Allele description [Variation Report for NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)]

NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)

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.1360C>T (p.Arg454Ter)
HGVS:
  • NC_000011.10:g.62690396G>A
  • NG_008461.1:g.24179C>T
  • NG_033077.1:g.4504C>T
  • NM_001122955.4:c.1360C>TMANE SELECT
  • NM_001130702.2:c.*162C>T
  • NM_001386027.1:c.1366C>T
  • NM_001386028.1:c.1360C>T
  • NM_032667.6:c.1168C>T
  • NP_001116427.1:p.Arg454Ter
  • NP_001372956.1:p.Arg456Ter
  • NP_001372957.1:p.Arg454Ter
  • NP_116056.3:p.Arg390Ter
  • LRG_235t2:c.1168C>T
  • LRG_235:g.24179C>T
  • LRG_235p2:p.Arg390Ter
  • NC_000011.9:g.62457868G>A
  • NR_037946.1:n.3880C>T
Protein change:
R390*
Links:
dbSNP: rs138515091
NCBI 1000 Genomes Browser:
rs138515091
Molecular consequence:
  • NM_001130702.2:c.*162C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_037946.1:n.3880C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001122955.4:c.1360C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386027.1:c.1366C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386028.1:c.1360C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032667.6:c.1168C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Severe neurodegenerative syndrome with lipodystrophy
Synonyms:
ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY; Encephalopathy, progressive, with or without lipodystrophy
Identifiers:
MONDO: MONDO:0014402; MedGen: C4014700; Orphanet: 363400; OMIM: 615924

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001528346Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 24, 2018) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Baylor Genetics, SCV001528346.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 29, 2024