Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 9, 2017
Accession:
VCV000536379.1
Variation ID:
536379
Description:
single nucleotide variant
Help

NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)

Allele ID
524098
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132264565 (GRCh38) GRCh38 UCSC
9: 135139952 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.132264565G>A
NC_000009.11:g.135139952G>A
NM_001351528.2:c.7795C>T NP_001338457.1:p.Pro2599Ser missense
... more HGVS
Protein change
P2570S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA375323518
dbSNP: rs1240232139
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 9, 2017 RCV000644818.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SETX - - GRCh38
GRCh37
464 503

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 09, 2017)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Allele origin: germline
Invitae
Accession: SCV000766533.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 2570 of the SETX protein (p.Pro2570Ser). The proline residue is weakly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 04, 2020