NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys) AND Charcot-Marie-Tooth disease axonal type 2X

Germline classification:: Uncertain significance (1 submission)
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:: RCV002468160.1

Allele description [Variation Report for NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)]

NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)

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.1618C>T (p.Arg540Cys)

HGVS:

NC_000015.10:g.44633622G>A
NG_008885.1:g.35057C>T
NM_001160227.2:c.1618C>T
NM_025137.4:c.1618C>TMANE SELECT
NP_001153699.1:p.Arg540Cys
NP_079413.3:p.Arg540Cys
NC_000015.9:g.44925820G>A
NM_025137.3:c.1618C>T

Protein change:

R540C

Links:

dbSNP: rs758046989

NCBI 1000 Genomes Browser:

rs758046989

Molecular consequence:

NM_001160227.2:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_025137.4:c.1618C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

unknown functional consequence

Condition(s)

Name:: Charcot-Marie-Tooth disease axonal type 2X
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X
Identifiers:: MONDO: MONDO:0014726; MedGen: C5569024; OMIM: 616668

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764119	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764119

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002764119.1

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

#	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: Jul 23, 2024

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