chr16:89546737:C>T Detail (hg38) (SPG7)

Information

Genome

Assembly Position
hg19 chr16:89,613,145-89,613,145 View the variant detail on this assembly version.
hg38 chr16:89,546,737-89,546,737

HGVS

Type Transcript Protein
RefSeq NM_003119.3:c.1508C>T NP_003110.1:p.Ala503Val
Ensemble ENST00000268704.7:c.1508C>T ENST00000268704.7:p.Ala503Val
ENST00000643649.1:c.1529C>T ENST00000643649.1:p.Ala510Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602783 OMIM
HGNC 11237 HGNC
Ensembl ENSG00000197912 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv397362570 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-05-22 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia 7 germline inherited maternal paternal unknown Detail
Pathogenic Likely pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-06-14 criteria provided, single submitter Spastic Paraplegia, Recessive germline Detail
Pathogenic 2023-03-23 criteria provided, multiple submitters, no conflicts hereditary spastic paraplegia germline inherited Detail
Pathogenic 2021-07-23 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter Spastic paraparesis unknown Detail
no classifications from unflagged records 2024-01-25 no classifications from unflagged records Optic nerve hypoplasia maternal Detail
Likely pathogenic 2019-02-13 criteria provided, single submitter intellectual disability unknown Detail
Pathogenic no assertion criteria provided spastic ataxia unknown Detail
Pathogenic 2022-09-02 criteria provided, single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 germline Detail
Likely pathogenic 2023-12-06 criteria provided, single submitter SPG7-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE NA CLINVAR Detail
0.560 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE The yeast complementation assay thus can serve as a reliable system to distingui... UNIPROT 20186691 Detail
<0.001 Spastic paraplegia SPG7 mutational screening in spastic paraplegia patients supports a dominant eff... BeFree 22571692 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Hereditary spastic paraplegia 7 ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND not provided ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Spastic Paraplegia, Recessive ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Hereditary spastic paraplegia ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Inborn genetic diseases ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND multiple conditions ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Optic nerve hypoplasia ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Intellectual disability ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND multiple conditions ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND Frontotemporal dementia and/or amyotrophic lateral scl... ClinVar Detail
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) AND SPG7-related disorder ClinVar Detail
NA DisGeNET Detail
The yeast complementation assay thus can serve as a reliable system to distinguish a pathogenic muta... DisGeNET Detail
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutatio... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs61755320 dbSNP
Genome
hg38
Position
chr16:89,546,737-89,546,737
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121348
Allele Counts in All Race (ExAC)
306
Heterozygous Counts in All Race (ExAC)
302
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.002521673204337937
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