NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 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:: RCV002573505.2

Allele description [Variation Report for NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro)]

NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro)

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.5497T>C (p.Ser1833Pro)

HGVS:

NC_000015.10:g.44584183A>G
NG_008885.1:g.84496T>C
NM_001160227.2:c.5497T>C
NM_025137.3:c.5497T>C
NM_025137.4:c.5497T>CMANE SELECT
NP_001153699.1:p.Ser1833Pro
NP_079413.3:p.Ser1833Pro
NC_000015.9:g.44876381A>G

Protein change:

S1833P

Links:

dbSNP: rs766375553

NCBI 1000 Genomes Browser:

rs766375553

Molecular consequence:

NM_001160227.2:c.5497T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_025137.4:c.5497T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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R94W[VARNAME] (79)
ClinVar
Aspartic Acid Endopeptidases
Aspartic Acid Endopeptidases
A sub-subclass of endopeptidases that depend on an ASPARTIC ACID residue for their activity.<br/>Year introduced: 2010(1991)

MeSH
eIF-2 Kinase
eIF-2 Kinase
A dsRNA-activated cAMP-independent protein serine/threonine kinase that is induced by interferon. In the presence of dsRNA and ATP, the kinase autophosphorylates on several se...<br/>Year introduced: 1998

MeSH
"1171927-53-9"[CompleteSynonym] (1)
PubChem Compound
"300588-82-3"[CompleteSynonym] (1)
PubChem Compound

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003545387	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003545387

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 31, 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, SCV003545387.2

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

Description

The c.5497T>C (p.S1833P) alteration is located in exon 30 (coding exon 30) of the SPG11 gene. This alteration results from a T to C substitution at nucleotide position 5497, causing the serine (S) at amino acid position 1833 to be replaced by a proline (P). Based on insufficient or conflicting evidence, 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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