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NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 14, 2021
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:
RCV002498501.8

Allele description [Variation Report for NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)]

NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)

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.1280T>C (p.Leu427Pro)
HGVS:
  • NC_000011.10:g.62690476A>G
  • NG_008461.1:g.24099T>C
  • NG_033077.1:g.4424T>C
  • NM_001122955.4:c.1280T>CMANE SELECT
  • NM_001130702.2:c.*82T>C
  • NM_001386027.1:c.1286T>C
  • NM_001386028.1:c.1280T>C
  • NM_032667.6:c.1088T>C
  • NP_001116427.1:p.Leu427Pro
  • NP_001116427.1:p.Leu427Pro
  • NP_001372956.1:p.Leu429Pro
  • NP_001372957.1:p.Leu427Pro
  • NP_116056.3:p.Leu363Pro
  • LRG_235t1:c.1280T>C
  • LRG_235t2:c.1088T>C
  • LRG_235:g.24099T>C
  • LRG_235p1:p.Leu427Pro
  • LRG_235p2:p.Leu363Pro
  • NC_000011.9:g.62457948A>G
  • NM_001122955.2:c.1280T>C
  • NM_001122955.3:c.1280T>C
  • NR_037946.1:n.3800T>C
Protein change:
L363P
Links:
dbSNP: rs145649423
NCBI 1000 Genomes Browser:
rs145649423
Molecular consequence:
  • NM_001130702.2:c.*82T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001122955.4:c.1280T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386027.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386028.1:c.1280T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032667.6:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037946.1:n.3800T>C - 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
Name:
Hereditary spastic paraplegia 17
Synonyms:
Silver spastic paraplegia syndrome; Spastic paraplegia 17; Spastic paraplegia with amyotrophy of hands and feet; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010043; MedGen: C2931276; Orphanet: 100998; OMIM: 270685
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
Name:
Neuronopathy, distal hereditary motor, type 5C
Synonyms:
DHMN VC; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0030860; MedGen: C5436838; OMIM: 619112

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002804276Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 14, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002804276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024