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NM_001122955.4(BSCL2):c.766-49T>C AND Neuronopathy, distal hereditary motor, type 5C

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001553981.3

Allele description [Variation Report for NM_001122955.4(BSCL2):c.766-49T>C]

NM_001122955.4(BSCL2):c.766-49T>C

Genes:
BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001122955.4(BSCL2):c.766-49T>C
HGVS:
  • NC_000011.10:g.62692522A>G
  • NG_008461.1:g.22053T>C
  • NG_033077.1:g.2378T>C
  • NM_001122955.4:c.766-49T>CMANE SELECT
  • NM_001130702.2:c.574-49T>C
  • NM_001386027.1:c.766-49T>C
  • NM_001386028.1:c.766-49T>C
  • NM_032667.6:c.574-49T>C
  • LRG_235t1:c.766-49T>C
  • LRG_235t2:c.574-49T>C
  • LRG_235:g.22053T>C
  • NC_000011.9:g.62459994A>G
  • NM_001122955.3:c.766-49T>C
Links:
dbSNP: rs2850597
NCBI 1000 Genomes Browser:
rs2850597
Molecular consequence:
  • NM_001122955.4:c.766-49T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130702.2:c.574-49T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386027.1:c.766-49T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386028.1:c.766-49T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032667.6:c.574-49T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neuronopathy, distal hereditary motor, type 5C
Synonyms:
DHMN VC; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0030860; MedGen: C5436838; OMIM: 619112

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001775109Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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, SCV001775109.1

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

Last Updated: Sep 29, 2024