NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000993048.1

Allele description [Variation Report for NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)]

NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)

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.6625C>T (p.Arg2209Cys)
HGVS:
  • NC_000015.10:g.44567553G>A
  • NG_008885.1:g.101126C>T
  • NM_001160227.2:c.6286C>T
  • NM_025137.4:c.6625C>TMANE SELECT
  • NP_001153699.1:p.Arg2096Cys
  • NP_079413.3:p.Arg2209Cys
  • NC_000015.9:g.44859751G>A
  • NM_025137.3:c.6625C>T
Protein change:
R2096C
Links:
dbSNP: rs374057859
NCBI 1000 Genomes Browser:
rs374057859
Molecular consequence:
  • NM_001160227.2:c.6286C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025137.4:c.6625C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001145750Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Feb 14, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.

Lamp M, Origone P, Geroldi A, Verdiani S, Gotta F, Caponnetto C, Devigili G, Verriello L, Scialò C, Cabona C, Canosa A, Vanni I, Bellone E, Eleopra R, Mandich P.

Neurobiol Aging. 2018 Jun;66:179.e5-179.e16. doi: 10.1016/j.neurobiolaging.2018.01.013. Epub 2018 Feb 1.

PubMed [citation]
PMID:
29525178

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001145750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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