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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004174599	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004174599

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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