NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002336551.2

Allele description [Variation Report for NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)]

NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)

Gene:

SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr)

HGVS:

NC_000015.10:g.44585698C>T
NG_008885.1:g.82981G>A
NM_001160227.2:c.5059G>A
NM_025137.4:c.5059G>AMANE SELECT
NP_001153699.1:p.Ala1687Thr
NP_079413.3:p.Ala1687Thr
NC_000015.9:g.44877896C>T
NM_025137.3:c.5059G>A

Protein change:

A1687T

Links:

dbSNP: rs779161014

NCBI 1000 Genomes Browser:

rs779161014

Molecular consequence:

NM_001160227.2:c.5059G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_025137.4:c.5059G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002643563	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002643563

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 29, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002643563.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A1687T variant (also known as c.5059G>A), located in coding exon 29 of the SPG11 gene, results from a G to A substitution at nucleotide position 5059. The alanine at codon 1687 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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