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NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del] AND Hereditary spastic paraplegia

Germline classification:
Affects (1 submission)
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:
RCV001376691.2

Alleles description [Variation Report for NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]]

NM_178014.4(TUBB):c.58-593_58-575del

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.58-593_58-575del
HGVS:
  • NC_000006.12:g.30721944_30721962del
  • NG_034142.1:g.6744_6762del
  • NM_001293212.2:c.66_84del
  • NM_001293213.2:c.58-593_58-575del
  • NM_001293214.2:c.35-974_35-956del
  • NM_001293215.2:c.-160+46_-160+64del
  • NM_001293216.2:c.-160+147_-160+165del
  • NM_178014.4:c.58-593_58-575delMANE SELECT
  • NP_001280141.1:p.Gly23fs
  • NC_000006.11:g.30689721_30689739del
  • NM_001293212.2:c.66_84delTGGGCAACAAAGCGAGACC
Protein change:
G23fs
Links:
dbSNP: rs2127746598
NCBI 1000 Genomes Browser:
rs2127746598
Molecular consequence:
  • NM_001293212.2:c.66_84del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293213.2:c.58-593_58-575del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293214.2:c.35-974_35-956del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293215.2:c.-160+46_-160+64del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293216.2:c.-160+147_-160+165del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178014.4:c.58-593_58-575del - intron variant - [Sequence Ontology: SO:0001627]

NM_178014.4(TUBB):c.58-574C>A

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.58-574C>A
HGVS:
  • NC_000006.12:g.30721963C>A
  • NG_034142.1:g.6763C>A
  • NM_001293212.2:c.85C>A
  • NM_001293213.2:c.58-574C>A
  • NM_001293214.2:c.35-955C>A
  • NM_001293215.2:c.-160+65C>A
  • NM_001293216.2:c.-160+166C>A
  • NM_178014.4:c.58-574C>AMANE SELECT
  • NP_001280141.1:p.Leu29Ile
  • NC_000006.11:g.30689740C>A
Protein change:
L29I
Links:
dbSNP: rs1776303588
NCBI 1000 Genomes Browser:
rs1776303588
Molecular consequence:
  • NM_001293213.2:c.58-574C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293214.2:c.35-955C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293215.2:c.-160+65C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293216.2:c.-160+166C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178014.4:c.58-574C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293212.2:c.85C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia
Synonyms:
Familial spastic paraparesis
Identifiers:
MONDO: MONDO:0019064; MedGen: C0037773; OMIM: PS303350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573784Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province
no assertion criteria provided
Affectsgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes7not providednot providednot providednot providedresearch

Details of each submission

From Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province, SCV001573784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Jan 26, 2024