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NM_001122955.4(BSCL2):c.479G>A (p.Arg160His) AND Hereditary spastic paraplegia 17

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002285004.1

Allele description [Variation Report for NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)]

NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)

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.479G>A (p.Arg160His)
HGVS:
  • NC_000011.10:g.62702475C>T
  • NG_008461.1:g.12100G>A
  • NM_001122955.4:c.479G>AMANE SELECT
  • NM_001130702.2:c.287G>A
  • NM_001386027.1:c.479G>A
  • NM_001386028.1:c.479G>A
  • NM_032667.6:c.287G>A
  • NP_001116427.1:p.Arg160His
  • NP_001116427.1:p.Arg160His
  • NP_001124174.2:p.Arg96His
  • NP_001372956.1:p.Arg160His
  • NP_001372957.1:p.Arg160His
  • NP_116056.3:p.Arg96His
  • LRG_235t1:c.479G>A
  • LRG_235t2:c.287G>A
  • LRG_235:g.12100G>A
  • LRG_235p1:p.Arg160His
  • LRG_235p2:p.Arg96His
  • NC_000011.9:g.62469947C>T
  • NM_001122955.3:c.479G>A
  • NR_037946.1:n.2999G>A
  • NR_037948.1:n.1081G>A
  • NR_037949.1:n.1081G>A
Protein change:
R160H
Molecular consequence:
  • NM_001122955.4:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130702.2:c.287G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386027.1:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386028.1:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032667.6:c.287G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037946.1:n.2999G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002574756GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV002574756.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024