GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SPG7 G56Ainsufficiently evaluated not reviewedunknown
SPG7 L78Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SPG7 K117Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
SPG7 K117Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
SPG7 G118Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
SPG7 G199Shiftpathogenic, f=0.008recessive

This variant is predicted to cause hereditary spastic paraplegia (paraplegin type) in a recessive manner. Other downstream frameshift mutations in this gene have been implicated in causing the disease. Age of onset is usually in adulthood (~25 years of age), and is characterized by progressive bilateral lower limb weakness and spasticity.

CGI sample GS00253-DNA_B02_200_37
SPG7 I219Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
SPG7 R294Hinsufficiently evaluated not reviewed, f=0.013unknown var-GS19025-1100-36-ASM
var-GS18502-1100-36-ASM
SPG7 V405Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SPG7 R474Winsufficiently evaluated noneunknown
SPG7 R486Qinsufficiently evaluated not reviewed, f=0.007unknown var-GS06985-1100-36-ASM
SPG7 T503Ainsufficiently evaluated pharmacogenetic, f=0.142unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
SPG7 A510Vlikely pathogenic, f=0.004recessive

Reported by several contributors to ClinVar as causing spastic paraplegia in a recessive manner. The variant is very common, and for homozygous individuals it’s possible that penetrance is low and/or the disease is mild and undiagnosed.

var-GS20509-1100-36-ASM
SPG7 R688Qinsufficiently evaluated pharmacogenetic, f=0.142recessive

The SPG7 gene (spastic paraplegia 7) encodes the mitochondrial protein paraplegin. Mutations in this gene are associated with hereditary spastic paraplegia (HSP), which is characterized by progressive stiffness and weakness in the lower limbs. The gene is located on Chromosome 16 and consists of 17 exons spanning 52kb. This is the only gene in which mutations are known to cause hereditary spastic paraplegia. Alleles are inherited in an autosomal recessive manner. The R688Q mutation is a single nucleotide polymorphism at exon 15. The polymorphism changes the ancestral allele, G, to an A at base pair 2063. This allele is also known as rs12960, which was shown to be associated with toxicity responses to chemotherapy drugs such as Docetaxel.

(4 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
SPG7 S692Tinsufficiently evaluated pathogenicunknown

(1 web hit)

SPG7 N730Dinsufficiently evaluated not reviewed, f=0.016unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
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Total results: 16

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