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NM_001128126.3(AP4S1):c.49dup (p.Ser17fs) AND Spastic paraplegia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV001849801.1

Allele description [Variation Report for NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)]

NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)

Gene:
AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)
HGVS:
  • NC_000014.9:g.31066245dup
  • NG_031913.1:g.46140dup
  • NM_001128126.3:c.49dupMANE SELECT
  • NM_001254726.2:c.49dup
  • NM_001254727.2:c.49dup
  • NM_001254728.2:c.49dup
  • NM_001254729.2:c.49dup
  • NM_007077.5:c.49dup
  • NP_001121598.1:p.Ser17fs
  • NP_001241655.1:p.Ser17fs
  • NP_001241656.1:p.Ser17fs
  • NP_001241657.1:p.Ser17fs
  • NP_001241658.1:p.Ser17fs
  • NP_009008.2:p.Ser17fs
  • NC_000014.8:g.31535451dup
  • NM_007077.4:c.49dupT
Protein change:
S17fs
Links:
dbSNP: rs2139569112
NCBI 1000 Genomes Browser:
rs2139569112
Molecular consequence:
  • NM_001128126.3:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001254726.2:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001254727.2:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001254728.2:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001254729.2:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007077.5:c.49dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106899Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Oct 1, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedliterature only

Citations

PubMed

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, et al.

Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Erratum in: Brain. 2021 Apr 12;144(3):e33. doi: 10.1093/brain/awaa424.

PubMed [citation]
PMID:
32979048
PMCID:
PMC7780481

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106899.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 24, 2023