U.S. flag

An official website of the United States government

NM_006736.6(DNAJB2):c.229+1G>A AND Autosomal recessive distal spinal muscular atrophy 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003447120.1

Allele description [Variation Report for NM_006736.6(DNAJB2):c.229+1G>A]

NM_006736.6(DNAJB2):c.229+1G>A

Gene:
DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_006736.6(DNAJB2):c.229+1G>A
HGVS:
  • NC_000002.12:g.219281772G>A
  • NG_029553.1:g.7455G>A
  • NM_001039550.2:c.229+1G>A
  • NM_006736.6:c.229+1G>AMANE SELECT
  • NC_000002.11:g.220146494G>A
  • NM_001039550.1:c.229+1G>A
  • NM_006736.5:c.229+1G>A
Nucleotide change:
IVS4DS, G-A, +1
Links:
OMIM: 604139.0002; dbSNP: rs730882139
NCBI 1000 Genomes Browser:
rs730882139
Molecular consequence:
  • NM_001039550.2:c.229+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006736.6:c.229+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal recessive distal spinal muscular atrophy 2
Synonyms:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; Hereditary motor neuropathy, Jerash type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011585; MedGen: C1854023; Orphanet: 139552; OMIM: 605726

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174599Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J.

Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.

PubMed [citation]
PMID:
25274842

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174599.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024