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NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) 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:
RCV002467996.1

Allele description [Variation Report for NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)]

NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)

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.7249G>A (p.Glu2417Lys)
HGVS:
  • NC_000015.10:g.44563204C>T
  • NG_008885.1:g.105475G>A
  • NM_001160227.2:c.6910G>A
  • NM_025137.4:c.7249G>AMANE SELECT
  • NP_001153699.1:p.Glu2304Lys
  • NP_079413.3:p.Glu2417Lys
  • NC_000015.9:g.44855402C>T
  • NM_025137.3:c.7249G>A
Protein change:
E2304K
Links:
dbSNP: rs371313584
NCBI 1000 Genomes Browser:
rs371313584
Molecular consequence:
  • NM_001160227.2:c.6910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025137.4:c.7249G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002763241Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Genome-Nilou Lab, SCV002763241.1

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

Last Updated: Sep 29, 2024