NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765212.1

Allele description [Variation Report for NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)]

NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)

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.3425C>G (p.Ser1142Cys)
HGVS:
  • NC_000015.10:g.44608472G>C
  • NG_008885.1:g.60207C>G
  • NM_001160227.2:c.3425C>G
  • NM_025137.4:c.3425C>GMANE SELECT
  • NP_001153699.1:p.Ser1142Cys
  • NP_079413.3:p.Ser1142Cys
  • NC_000015.9:g.44900670G>C
  • NM_025137.3:c.3425C>G
  • p.Ser1142Cys
Protein change:
S1142C
Links:
dbSNP: rs201082396
NCBI 1000 Genomes Browser:
rs201082396
Molecular consequence:
  • NM_001160227.2:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025137.4:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 5 (ALS5)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
Identifiers:
MONDO: MONDO:0011196; MedGen: C1865864; Orphanet: 300605; OMIM: 602099
Name:
Spastic paraplegia 11, autosomal recessive (SPG11)
Synonyms:
SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; Spastic paraplegia 11; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360
Name:
Charcot-Marie-Tooth disease, axonal type 2X (CMT2X)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X
Identifiers:
MONDO: MONDO:0014726; MedGen: C4225253; OMIM: 616668

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896448Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics,Fulgent Genetics, SCV000896448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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